{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:22:49Z","timestamp":1791202969298,"version":"4.2.0"},"reference-count":970,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T00:00:00Z","timestamp":1647302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011731","name":"Action for A-T","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008163","name":"A-T Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008163","id-type":"DOI","asserted-by":"publisher"}]},{"name":"BrAshA-T"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec002\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec003\">\n                    <jats:title>Search methods<\/jats:title>\n                    <jats:p>107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 \u2013present, Web of Science core collection, Elsevier Scopus, and Cochrane Library.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec004\">\n                    <jats:title>Selection criteria<\/jats:title>\n                    <jats:p>All human studies that report any aspect of A-T.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec005\">\n                    <jats:title>Data collection and analysis<\/jats:title>\n                    <jats:p>Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec006\">\n                    <jats:title>Main results<\/jats:title>\n                    <jats:p>1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec007\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1371\/journal.pone.0264177","type":"journal-article","created":{"date-parts":[[2022,3,15]],"date-time":"2022-03-15T13:35:52Z","timestamp":1647351352000},"page":"e0264177","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":77,"title":["The natural history of ataxia-telangiectasia (A-T): A systematic review"],"prefix":"10.1371","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2388-3793","authenticated-orcid":true,"given":"Emily","family":"Petley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Yule","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaun","family":"Alexander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5668-4227","authenticated-orcid":true,"given":"Shalini","family":"Ojha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William P.","family":"Whitehouse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2022,3,15]]},"reference":[{"issue":"7","key":"pone.0264177.ref001","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1111\/dmcn.13052","article-title":"Longitudinal analysis of the neurological features of ataxia-telangiectasia.","volume":"58","author":"T.J. Jackson","year":"2016","journal-title":"Developmental Medicine & Child Neurology"},{"issue":"5","key":"pone.0264177.ref002","doi-asserted-by":"crossref","first-page":"315","DOI":"10.3109\/17518423.2011.603368","article-title":"Cognitive and speech-language performance in children with ataxia telangiectasia.","volume":"14","author":"A. Vinck","year":"2011","journal-title":"Developmental neurorehabilitation"},{"issue":"2","key":"pone.0264177.ref003","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s12311-018-0983-9","article-title":"The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia.","volume":"18","author":"F. Hoche","year":"2019","journal-title":"Cerebellum"},{"issue":"1","key":"pone.0264177.ref004","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: a review","volume":"11","author":"C. Rothblum-Oviatt","year":"2016","journal-title":"Orphanet Journal Of Rare Diseases"},{"key":"pone.0264177.ref005","author":"E. Petley","year":"2021","journal-title":"Scoping Review of the Natural History of Ataxia-Telangiectasia"},{"key":"pone.0264177.ref006","article-title":"The Newcastle-Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses.","author":"GA Wells"},{"key":"pone.0264177.ref007","author":"JPT Higgins","year":"2011","journal-title":"Cochrane Handbook for Systematic Reviews of Interventions"},{"key":"pone.0264177.ref008","article-title":"Assessing the Risk of Bias of Individual Studies in Systematic Reviews of Health Care Interventions.","year":"2012","journal-title":"Agency for Healthcare Research and Quality Methods Guide for Comparative Effectiveness Reviews"},{"issue":"1","key":"pone.0264177.ref009","first-page":"135","article-title":"Primary Immunodeficiency Diseases And Malignancy In Japan Hiroshi Hayakawa","volume":"49","author":"N. Kobayashi","year":"1989","journal-title":"The Japanese Journal of Pharmacology"},{"key":"pone.0264177.ref010","first-page":"371","article-title":"Dyslipidemia and reduced antioxidant vitamins in ataxia telangiectasia patients","author":"I.G.A. Andrade","year":"2014","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref011","first-page":"177","article-title":"Mosaic expression of chromosome instability in the ataxia telangiectasia brain","volume":"17","author":"I. Iourov","year":"2009","journal-title":"Chromosome Research"},{"issue":"Pt 6","key":"pone.0264177.ref012","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/brain\/awp056","article-title":"Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study","volume":"132","author":"A.K. Erichsen","year":"2009","journal-title":"Brain"},{"issue":"6","key":"pone.0264177.ref013","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1183\/09031936.00141413","article-title":"Microbiological surveillance in lung disease in ataxia telangiectasia","volume":"43","author":"J.M. Bhatt","year":"2014","journal-title":"European Respiratory Journal"},{"issue":"6","key":"pone.0264177.ref014","first-page":"302","article-title":"Ophthalmologic features of the phakomatoses in children","volume":"72","author":"E. Lopez-Rodriguez","year":"1998","journal-title":"Revista Mexicana de Oftalmologia"},{"issue":"6","key":"pone.0264177.ref015","doi-asserted-by":"crossref","first-page":"574","DOI":"10.3109\/08880018.2013.777949","article-title":"Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.","volume":"30","author":"B. Bielorai","year":"2013","journal-title":"Pediatric Hematology & Oncology"},{"issue":"9","key":"pone.0264177.ref016","doi-asserted-by":"crossref","first-page":"S162","DOI":"10.1016\/j.pmrj.2015.06.255","article-title":", Adult onset ataxia-telangiectasia with left lower leg malignant sarcoma requiring left knee disarticulation amputation: A case report.","volume":"7","author":"H.A. Pajor","year":"2015","journal-title":"PM and R"},{"issue":"6","key":"pone.0264177.ref017","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/ana.20139","article-title":"Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity","volume":"55","author":"I.J. Sutton","year":"2004","journal-title":"Annals of Neurology"},{"issue":"4","key":"pone.0264177.ref018","doi-asserted-by":"crossref","first-page":"e346","DOI":"10.1212\/NXG.0000000000000346","article-title":"Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.","volume":"5","author":"M. Krenn","year":"2019","journal-title":"Neurol Genet"},{"issue":"5","key":"pone.0264177.ref019","first-page":"1367","article-title":"Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.","volume":"131","author":"G.J. Driessen","journal-title":"Journal of Allergy & Clinical Immunology, 2013."},{"issue":"11\u201312","key":"pone.0264177.ref020","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1016\/S0161-5890(98)90448-5","article-title":"Antibody production against pneumococcal polysaccharide in patients with ataxia-telangiectasia","volume":"35","author":"O. Sanal","year":"1998","journal-title":"Molecular Immunology"},{"issue":"4","key":"pone.0264177.ref021","article-title":"Ataxia telangiectasia","volume":"31","author":"W. Liebrich","year":"2018","journal-title":"Current Allergy and Clinical Immunology"},{"key":"pone.0264177.ref022","first-page":"102","article-title":"Ataxia telangiectasia presenting with a normal level of ATM protein, multiple myeloma and prolonged survival","volume":"252","author":"E. Chaila","year":"2005","journal-title":"Journal of Neurology"},{"issue":"2","key":"pone.0264177.ref023","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/j.1365-2133.1973.tb07524.x","article-title":"Ataxia telangiectasia. Case report of a benign variant with telangiectasia recurrent infection and low IgA","volume":"88","author":"L. Stankler","year":"1973","journal-title":"British Journal of Dermatology"},{"key":"pone.0264177.ref024","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.clim.2017.01.009","article-title":"Ataxia-telangiectasia: Immunodeficiency and survival","volume":"178","author":"N.J.H. van Os","year":"2017","journal-title":"Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref025","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s00234-003-0945-9","article-title":"Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI","volume":"45","author":"F. Tavani","year":"2003","journal-title":"Neuroradiology"},{"issue":"6","key":"pone.0264177.ref026","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1212\/WNL.0b013e3181b39140","article-title":"Ataxia-telangiectasia: without ataxia or telangiectasia?","volume":"73","author":"R.J. Saunders-Pullman","year":"2009","journal-title":"Neurology"},{"issue":"8","key":"pone.0264177.ref027","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1007\/s00415-008-0857-z","article-title":"Attenuated presentation of ataxia-telangiectasia with familial cancer history","volume":"255","author":"C. Simonin","year":"2008","journal-title":"Journal of Neurology"},{"issue":"1","key":"pone.0264177.ref028","first-page":"S157","article-title":"An atypical variant of ataxia telangiectasia presenting as idiopathic torsion dystonia","volume":"23","author":"W. Meissner","year":"2008","journal-title":"Movement Disorders"},{"key":"pone.0264177.ref029","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1469-8749.1963.tb04985.x","article-title":"Atypical variants of the \u2019ataxia telangiectasia\u2019 syndrome. Report of two cases, including one with apparent dominant inheritance","volume":"5","author":"R.S. Paine","year":"1963","journal-title":"Developmental Medicine & Child Neurology"},{"issue":"4","key":"pone.0264177.ref030","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/mdc3.12287","article-title":"Bilateral Deep Brain Stimulation of the Globus Pallidus Pars Interna in a Patient with Variant Ataxia-Telangiectasia","volume":"3","author":"D. Georgiev","year":"2016","journal-title":"Movement Disorders Clinical Practice"},{"key":"pone.0264177.ref031","first-page":"S491","article-title":"Chronic thalamic deep brain stimulation in ataxia telangiectasia (A-T; Louis-Bar-Syndrome)","volume":"24","author":"C. Schrader","year":"2009","journal-title":"Movement Disorders"},{"issue":"6","key":"pone.0264177.ref032","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/WNL.0b013e3181af33bd","article-title":"Clinical spectrum of ataxia-telangiectasia in adulthood","volume":"73","author":"M.M. Verhagen","year":"2009","journal-title":"Neurology"},{"issue":"1","key":"pone.0264177.ref033","first-page":"1","article-title":"An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant. Clinical Neurology &","volume":"97","author":"A.S. de Graaf","year":"1995","journal-title":"Neurosurgery"},{"issue":"2","key":"pone.0264177.ref034","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/dmcn.14334","article-title":"Functional parameter measurements in children with ataxia telangiectasia.","volume":"62","author":"E. Shenhod","year":"2020","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"pone.0264177.ref035","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/ana.25394","article-title":"Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia","volume":"85","author":"K. Schon","year":"2019","journal-title":"Ann Neurol"},{"issue":"5","key":"pone.0264177.ref036","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1136\/jmedgenet-2018-105635","article-title":"Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations","volume":"56","author":"N.J.H. van Os","year":"2019","journal-title":"J Med Genet"},{"issue":"3","key":"pone.0264177.ref037","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1086\/301755","article-title":"Genotype-phenotype relationships in ataxia-telangiectasia and variants","volume":"62","author":"S. Gilad","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"10","key":"pone.0264177.ref038","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1007\/s00415-010-5583-7","article-title":"Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia","volume":"257","author":"G. Silvestri","year":"2010","journal-title":"Journal of Neurology"},{"issue":"2","key":"pone.0264177.ref039","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/cei.12262","article-title":"Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients. Clinical &","volume":"176","author":"C. Chopra","year":"2014","journal-title":"Experimental Immunology"},{"issue":"2","key":"pone.0264177.ref040","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/j.1365-2249.2008.03684.x","article-title":"Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clinical &","volume":"153","author":"E.R. Staples","year":"2008","journal-title":"Experimental Immunology"},{"issue":"1","key":"pone.0264177.ref041","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1136\/jmg.39.1.57","article-title":"A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G\/7481insA","volume":"39","author":"S. Saviozzi","year":"2002","journal-title":"Journal of Medical Genetics"},{"issue":"4","key":"pone.0264177.ref042","first-page":"365","article-title":"Late-onset ataxia telangiectasia. Neurology","volume":"4","author":"L. Newrick","year":"2014","journal-title":"Clinical Practice"},{"issue":"5","key":"pone.0264177.ref043","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/j.1399-0004.1997.tb02479.x","article-title":"Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.","volume":"51","author":"K. Chrzanowska","year":"1997","journal-title":"Clinical Genetics"},{"issue":"4","key":"pone.0264177.ref044","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1038\/bjc.2011.266","article-title":"Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours","volume":"105","author":"A. Reiman","year":"2011","journal-title":"British Journal of Cancer"},{"issue":"1","key":"pone.0264177.ref045","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/s12017-016-8440-8","article-title":"Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.","volume":"19","author":"D. Carranza","year":"2017","journal-title":"NeuroMolecular Medicine"},{"issue":"2","key":"pone.0264177.ref046","first-page":"320","article-title":"Mutations associated with variant phenotypes in ataxia-telangiectasia","volume":"59","author":"C.M. McConville","year":"1996","journal-title":"American Journal of Human Genetics"},{"issue":"12","key":"pone.0264177.ref047","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1016\/j.parkreldis.2013.08.013","article-title":"Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia.","volume":"19","author":"G. Cummins","year":"2013","journal-title":"Parkinsonism & Related Disorders"},{"key":"pone.0264177.ref048","first-page":"S335","article-title":"Natural history, phenotype, and genotype of a case of late-onset ataxia telangiectasia","volume":"21","author":"C. Schrader","year":"2006","journal-title":"Movement Disorders"},{"issue":"3","key":"pone.0264177.ref049","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1440-1789.2011.01263.x","article-title":"Neuropathology in classical and variant ataxia-telangiectasia","volume":"32","author":"M.M. Verhagen","year":"2012","journal-title":"Neuropathology"},{"issue":"5","key":"pone.0264177.ref050","first-page":"382","article-title":", A novel ATM deletion in a 2-year-old female with variant Ataxia-telangiectasia","volume":"22","author":"E, W.K. Farnsworth","year":"2019","journal-title":"Twin Research and Human Genetics"},{"issue":"1","key":"pone.0264177.ref051","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.clim.2011.03.007","article-title":"Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia","volume":"140","author":"A.R. Exley","year":"2011","journal-title":"Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref052","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1002\/humu.22016","article-title":"Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study","volume":"33","author":"M.M. Verhagen","year":"2012","journal-title":"Human Mutation"},{"issue":"6140","key":"pone.0264177.ref053","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1136\/bmj.2.6140.802","article-title":"Presumed ataxia-telangiectasia in a man","volume":"2","author":"T.R. Terenty","year":"1978","journal-title":"British Medical Journal"},{"issue":"1","key":"pone.0264177.ref054","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1007\/s12311-008-0055-7","article-title":"Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia.","volume":"8","author":"F. Carrillo","year":"2009","journal-title":"Cerebellum"},{"issue":"2","key":"pone.0264177.ref055","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/bjc.2011.534","article-title":"Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia","volume":"106","author":"P.J. Byrd","year":"2012","journal-title":"British Journal of Cancer"},{"issue":"SUPPL. 1","key":"pone.0264177.ref056","first-page":"S256","article-title":"Severity of antibody deficiency in ataxia telangiectasia is associated with intrinsic defects in B-and T-cell development","volume":"32","author":"G.J. Driessen","year":"2012","journal-title":"Journal of Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref057","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/ajmg.a.20601","article-title":"Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations","volume":"126A","author":"T. Dork","year":"2004","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"11","key":"pone.0264177.ref058","doi-asserted-by":"crossref","first-page":"E48","DOI":"10.1136\/jnnp.2010.226340.124","article-title":"VARIANT ATAXIA TELANGIECTASIA IN SIBLINGS WITH NORMAL alpha-FETOPROTEIN LEVELS","volume":"81","author":"C. Albertyn","year":"2010","journal-title":"Journal of Neurology Neurosurgery and Psychiatry"},{"issue":"3","key":"pone.0264177.ref059","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s12017-013-8231-4","article-title":"Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.","volume":"15","author":"K. Claes","year":"2013","journal-title":"NeuroMolecular Medicine"},{"key":"pone.0264177.ref060","first-page":"S234","article-title":"Variant ataxia-telangiectasia in Mennonites and neuromuscular presentations","volume":"28","author":"S.G.E. Mendieta","year":"2013","journal-title":"Movement Disorders"},{"issue":"9","key":"pone.0264177.ref061","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1212\/WNL.0b013e3182494d51","article-title":"Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites","volume":"78","author":"R. Saunders-Pullman","year":"2012","journal-title":"Neurology"},{"key":"pone.0264177.ref062","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.parkreldis.2018.12.017","article-title":"Variant ataxia-telangiectasia with prominent camptocormia","volume":"62","author":"M. Paucar","year":"2019","journal-title":"Parkinsonism Relat Disord"},{"issue":"11","key":"pone.0264177.ref063","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1136\/jmg.24.11.669","article-title":"Variant forms of ataxia telangiectasia","volume":"24","author":"A.M. Taylor","year":"1987","journal-title":"Journal of Medical Genetics"},{"issue":"3","key":"pone.0264177.ref064","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1007\/BF00273456","article-title":"Variant of ataxia-telangiectasia with low-level radiosensitivity","volume":"70","author":"M. Fiorilli","year":"1985","journal-title":"Human Genetics"},{"issue":"3","key":"pone.0264177.ref065","doi-asserted-by":"crossref","first-page":"491","DOI":"10.24953\/turkjped.2020.03.019","article-title":"Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia","volume":"62","author":"P. Ar\u0131can","year":"2020","journal-title":"Turk J Pediatr"},{"key":"pone.0264177.ref066","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ejpn.2021.03.008","article-title":"Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia.","volume":"32","author":"J. Bistritzer","year":"2021","journal-title":"Eur J Paediatr Neurol"},{"issue":"Supplement 1","key":"pone.0264177.ref067","first-page":"367","article-title":"Clinical variability of variant of ataxia-telangiectasia among Bulgarian patients with mutations in ATM","volume":"27","author":"T. Chamova","year":"2020","journal-title":"European Journal of Neurology"},{"issue":"1","key":"pone.0264177.ref068","doi-asserted-by":"crossref","first-page":"7479","DOI":"10.1038\/s41598-020-64514-2","article-title":"DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype","volume":"10","author":"S.A. McGrath-Morrow","year":"2020","journal-title":"Sci Rep"},{"issue":"Supplement 5","key":"pone.0264177.ref069","doi-asserted-by":"crossref","first-page":"S1235","DOI":"10.1016\/j.annonc.2020.08.2217","article-title":"58P An atypical late-onset case of homozygous ATM variant supported by a complex molecular mechanism of mosaic uniparental isodisomy","volume":"31","author":"S. Nambot","year":"2020","journal-title":"Annals of Oncology"},{"issue":"2","key":"pone.0264177.ref070","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/s00431-019-03479-5","article-title":"Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents\u2019 perspective","volume":"179","author":"M.H.D. Schoenaker","year":"2020","journal-title":"European Journal of Pediatrics"},{"issue":"12","key":"pone.0264177.ref071","doi-asserted-by":"crossref","first-page":"2971","DOI":"10.1002\/ajmg.a.61870","article-title":"Evidence of pathogenicity for the leaky splice variant c.1066-6T>G\u2009in ATM","volume":"182","author":"S. Schr\u00f6der","year":"2020","journal-title":"Am J Med Genet A"},{"issue":"1","key":"pone.0264177.ref072","doi-asserted-by":"crossref","first-page":"125","DOI":"10.31083\/j.jin.2020.01.1239","article-title":"Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene","volume":"19","author":"H. Shimazaki","year":"2020","journal-title":"J Integr Neurosci"},{"issue":"4","key":"pone.0264177.ref073","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/dmcn.14811","article-title":"Dysarthria in children and adults with ataxia telangiectasia.","volume":"63","author":"S.J.G. Veenhuis","year":"2021","journal-title":"Dev Med Child Neurol"},{"issue":"3","key":"pone.0264177.ref074","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/mdc3.12048","article-title":"Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia","volume":"1","author":"S. Thompson","year":"2014","journal-title":"Movement Disorders Clinical Practice"},{"issue":"1","key":"pone.0264177.ref075","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.pediatrneurol.2007.03.002","article-title":"Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients","volume":"37","author":"M. Moin","year":"2007","journal-title":"Pediatric Neurology"},{"issue":"4","key":"pone.0264177.ref076","doi-asserted-by":"crossref","first-page":"573","DOI":"10.31688\/ABMU.2020.55.4.03","article-title":"Clinical and immunological presentation of ataxia-telangiectasia.","volume":"55","author":"O. Boyarchuk","year":"2020","journal-title":"Archives of the Balkan Medical Union"},{"issue":"4","key":"pone.0264177.ref077","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1111\/pde.14200","article-title":"Melanoma arising in a patient with ataxia-telangiectasia: A call for full skin examinations in this patient population.","volume":"37","author":"S. Oska","year":"2020","journal-title":"Pediatr Dermatol,"},{"issue":"3","key":"pone.0264177.ref078","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1177\/039463201402700312","article-title":"Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia?","volume":"27","author":"E. Azarsiz","year":"2014","journal-title":"International Journal of Immunopathology & Pharmacology"},{"issue":"27","key":"pone.0264177.ref079","doi-asserted-by":"crossref","first-page":"2724","DOI":"10.1182\/bloodadvances.2017010470","article-title":"T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib)","volume":"1","author":"G.L. Li","year":"2017","journal-title":"Blood Advances"},{"issue":"2","key":"pone.0264177.ref080","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1002\/jso.2930390214","article-title":"Ataxia telangiectasia and acinic cell carcinoma of the parotid gland","volume":"39","author":"C. Mock","year":"1988","journal-title":"Journal of Surgical Oncology"},{"key":"pone.0264177.ref081","first-page":"66","article-title":"An unusual presentation of ataxia-telangiectasia","volume":"251","author":"K. Stenlake","year":"2004","journal-title":"Journal of Neurology"},{"key":"pone.0264177.ref082","article-title":"Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia","author":"S.K. Sze","year":"2019","journal-title":"J Pediatr Hematol Oncol"},{"issue":"4","key":"pone.0264177.ref083","first-page":"270","article-title":"Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia","volume":"50","author":"G.G. Trimis","year":"2004","journal-title":"Journal of Postgraduate Medicine"},{"issue":"4","key":"pone.0264177.ref084","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.spen.2008.10.011","article-title":"The wobbly child: an approach to inherited ataxias","volume":"15","author":"G. Bernard","year":"2008","journal-title":"Seminars in Pediatric Neurology"},{"issue":"1","key":"pone.0264177.ref085","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1080\/02724936.1994.11747695","article-title":"The occurrence of ataxia-telangiectasia and common variable immunodeficiency in siblings: case report","volume":"14","author":"V.M. Osundwa","year":"1994","journal-title":"Annals of Tropical Paediatrics"},{"issue":"3","key":"pone.0264177.ref086","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1159\/000246117","article-title":"Cutaneous granulomas as a presenting sign in ataxia-telangiectasia","volume":"194","author":"B.A. Drolet","year":"1997","journal-title":"Dermatology"},{"issue":"5","key":"pone.0264177.ref087","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s12519-017-0011-z","article-title":"Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients","volume":"13","author":"H. Akturk","year":"2017","journal-title":"World Journal of Pediatrics"},{"issue":"4","key":"pone.0264177.ref088","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1007\/s10875-010-9390-9","article-title":"Erratum: BAK, BAX, and NBK\/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia (Journal of Clinical Immunology","volume":"30","author":"A. Isaian","year":"2010","journal-title":"Journal of Clinical Immunology"},{"issue":"SUPPL. 1","key":"pone.0264177.ref089","first-page":"58","article-title":"Dopa-responsive dystonia in ataxia telangiectasia","volume":"56","author":"A. Iyer","year":"2014","journal-title":"Developmental Medicine and Child Neurology"},{"issue":"3","key":"pone.0264177.ref090","first-page":"208","article-title":"Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasia","volume":"46","author":"O. Sanal","year":"2004","journal-title":"Turkish Journal of Pediatrics"},{"issue":"2","key":"pone.0264177.ref091","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1136\/jmg.16.2.160","article-title":"Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome).","volume":"16","author":"M.A. Frais","year":"1979","journal-title":"Journal of Medical Genetics"},{"issue":"5","key":"pone.0264177.ref092","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1002\/1097-0142(19940901)74:5<1649::AID-CNCR2820740527>3.0.CO;2-7","article-title":"Low grade non\u2010hodgkin\u2019s lymphoma after high grade non\u2010hodgkin\u2019s lymphoma in a child with ataxia teleangiectasia","volume":"74","author":"K.T.K. Chen","year":"1994","journal-title":"Cancer"},{"issue":"6","key":"pone.0264177.ref093","doi-asserted-by":"crossref","first-page":"e463","DOI":"10.1097\/MPH.0000000000001537","article-title":"Hepatosplenic \u03b1\u03b2 T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia","volume":"42","author":"M.F. Jacobs","year":"2020","journal-title":"J Pediatr Hematol Oncol"},{"key":"pone.0264177.ref094","doi-asserted-by":"crossref","first-page":"106267","DOI":"10.1016\/j.clineuro.2020.106267","article-title":"Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.","volume":"199","author":"M. Kim","year":"2020","journal-title":"Clin Neurol Neurosurg"},{"key":"pone.0264177.ref095","doi-asserted-by":"crossref","first-page":"2940","DOI":"10.3389\/fimmu.2019.02940","article-title":"Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years\u2019 Experience.","volume":"10","author":"A.B. Mandola","year":"2019","journal-title":"Front Immunol"},{"issue":"5","key":"pone.0264177.ref096","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1159\/000515696","article-title":"Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.","volume":"12","author":"R.S. Rodriguez","year":"2021","journal-title":"Mol Syndromol"},{"issue":"1","key":"pone.0264177.ref097","doi-asserted-by":"crossref","first-page":"e138","DOI":"10.1097\/MPH.0000000000001672","article-title":"Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia","volume":"43","author":"S.K. Sze","year":"2021","journal-title":"J Pediatr Hematol Oncol"},{"issue":"SUPPL 4","key":"pone.0264177.ref098","first-page":"A91","article-title":"Ataxia-teleangiectasia followed up in a hereditary gynaecological cancer unit of a tertiary hospital","volume":"30","author":"A. Veiga-Fernandez","year":"2020","journal-title":"International Journal of Gynecological Cancer"},{"issue":"4","key":"pone.0264177.ref099","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.pediatrneurol.2006.05.011","article-title":"Ataxia-telangiectasia complicated by craniopharyngioma\u2014a new observation","volume":"35","author":"A.T. Masri","year":"2006","journal-title":"Pediatric Neurology"},{"key":"pone.0264177.ref100","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.jns.2017.06.012","article-title":"A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis","volume":"379","author":"M.A. Tabatabaiefar","year":"2017","journal-title":"Journal of the Neurological Sciences"},{"issue":"11","key":"pone.0264177.ref101","first-page":"695","article-title":"Ataxie telangiectasia et telangiectasies vesicales","volume":"92","author":"R. Ben Abdallah Chabchoub","year":"2014","journal-title":"Tunisie Medicale"},{"issue":"1","key":"pone.0264177.ref102","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1080\/16078454.2021.1908725","article-title":"T cell ALL in a child with Ataxia telangiectasia; diagnosis and management challenges","volume":"26","author":"O. Ahmed","year":"2021","journal-title":"Hematology"},{"key":"pone.0264177.ref103","first-page":"S21","article-title":"Late presentation of ataxia telangiectasia (AT).","volume":"19","author":"T. Jawad","year":"2004","journal-title":"Movement Disorders"},{"issue":"3","key":"pone.0264177.ref104","first-page":"332","article-title":"Ataxia-Telangiectasia","volume":"104","author":"B. Lerner","year":"1971","journal-title":"Archives of Dermatology"},{"issue":"6","key":"pone.0264177.ref105","article-title":"Primary diffuse large b-cell lymphoma arising in the tongue accompanied by ataxia-telangiectasia: A case report","volume":"9","author":"H. Tomioka","year":"2015","journal-title":"Journal of Clinical and Diagnostic Research"},{"issue":"8","key":"pone.0264177.ref106","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1002\/ajmg.a.37084","article-title":"Ataxia-telangiectasia with female fertility","volume":"167A","author":"A.J. Dawson","year":"2015","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"1","key":"pone.0264177.ref107","first-page":"145","article-title":"Ataxia Telangiectasia with Agammaglobulinemia-G and Masquerading as Chiari Malformation","volume":"91","author":"M.A. Macias","year":"1993","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref108","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1001\/archopht.1967.00980020584004","article-title":"Ataxia-telangiectasia. Report of seven cases","volume":"77","author":"R.D. Harley","year":"1967","journal-title":"Archives of Ophthalmology"},{"issue":"1","key":"pone.0264177.ref109","doi-asserted-by":"crossref","first-page":"39","DOI":"10.4103\/0971-6866.64940","article-title":"Ataxia telangiectasia: Family management","volume":"16","author":"A. Seshachalam","year":"2010","journal-title":"Indian Journal of Human Genetics"},{"issue":"2","key":"pone.0264177.ref110","doi-asserted-by":"crossref","first-page":"162","DOI":"10.17712\/nsj.2018.2.20170463","article-title":"A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing","volume":"23","author":"N.A. Alonazi","year":"2018","journal-title":"Neurosciences"},{"key":"pone.0264177.ref111","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/jnnp.27.1.38","article-title":"Ataxia Telangiectasia","volume":"27","author":"H.L. Utian","year":"1964","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"pone.0264177.ref112","first-page":"657","article-title":"Ataxia Telangiectasia","volume":"82","author":"S. Barsky","year":"1960","journal-title":"Archives of Dermatology"},{"issue":"6","key":"pone.0264177.ref113","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1002\/1097-0142(197312)32:6<1415::AID-CNCR2820320619>3.0.CO;2-Y","article-title":"Ataxia-telangiectasia and Hodgkin\u2019s disease","volume":"32","author":"V.J. Harris","year":"1973","journal-title":"Cancer"},{"issue":"4","key":"pone.0264177.ref114","doi-asserted-by":"crossref","first-page":"249","DOI":"10.2177\/jsci.6.249","article-title":"Follow-up studies of immunological disorders in patients with ataxia-telangiectasia II. Study of a boy with T cell malignancy","volume":"6","author":"M. Matsuoka","year":"1983","journal-title":"Japanese Journal of Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref115","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1097\/00043426-198623000-00016","article-title":"Ataxia-telangiectasia with papillary carcinoma of the thyroid","volume":"8","author":"S. Ohta","year":"1986","journal-title":"American Journal of Pediatric Hematology\/Oncology"},{"issue":"4","key":"pone.0264177.ref116","doi-asserted-by":"crossref","first-page":"293","DOI":"10.4103\/0022-3859.70946","article-title":"Fatal hemoptysis in a child with ataxia-telangiectasia: zeroing down on the rare cause","volume":"56","author":"Y. Gabhale","year":"2010","journal-title":"Journal of Postgraduate Medicine"},{"issue":"1","key":"pone.0264177.ref117","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1186\/s13023-021-01732-5","article-title":"Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers.","volume":"16","author":"I.G.A. Andrade","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"pone.0264177.ref118","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1136\/jnnp.40.1.44","article-title":"Abnormalities in sensory and mixed evoked potentials in ataxia telangiectasia","volume":"40","author":"A. Cruz Martinez","year":"1977","journal-title":"Journal of Neurology Neurosurgery and Psychiatry"},{"issue":"3","key":"pone.0264177.ref119","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/0303-8467(88)90038-8","article-title":"Ataxia telangiectasia in a brother and sister at older age.","volume":"90","author":"J. de Jonge","year":"1988","journal-title":"Clinical Neurology & Neurosurgery"},{"issue":"4","key":"pone.0264177.ref120","first-page":"252","article-title":"Ataxia telangiectasia in two brothers and one sister","volume":"38","author":"M. Saeed","year":"2014","journal-title":"Pakistan Paediatric Journal"},{"issue":"4","key":"pone.0264177.ref121","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1046\/j.1440-1827.2001.01199.x","article-title":"Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review","volume":"51","author":"M. Kamiya","year":"2001","journal-title":"Pathol Int"},{"issue":"74","key":"pone.0264177.ref122","doi-asserted-by":"crossref","first-page":"5515","DOI":"10.14260\/jemds\/2016\/1245","article-title":"Ataxia Telangiectasia: A Rare Case Report","volume":"5","author":"S.Y. Ingale","year":"2016","journal-title":"Journal of Evolution of Medical and Dental Sciences-Jemds"},{"issue":"4","key":"pone.0264177.ref123","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/mds.870040405","article-title":"Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases","volume":"4","author":"R. Stell","year":"1989","journal-title":"Movement Disorders"},{"issue":"4","key":"pone.0264177.ref124","doi-asserted-by":"crossref","first-page":"217","DOI":"10.4103\/0971-5851.95145","article-title":"Ataxia telangiectasia: A report of two cousins and review of literature","volume":"32","author":"A. Sharma","year":"2011","journal-title":"Indian Journal of Medical and Paediatric Oncology"},{"key":"pone.0264177.ref125","author":"S.H. Bagis H","year":"2019","journal-title":"Ataxia telangiectasia: Case report. Gazi Medical Journal"},{"issue":"2","key":"pone.0264177.ref126","first-page":"139","article-title":"Ataxia telangiectasia\u2014a case report","volume":"35","author":"A. Kanaganayagam","year":"1980","journal-title":"Medical Journal of Malaysia"},{"issue":"1","key":"pone.0264177.ref127","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1089\/ped.2017.0788","article-title":"Ataxia-Telangiectasia Clinical and Laboratory Features: Single Center Results.","volume":"31","author":"A.S. Sasihuseyinoglu","year":"2018","journal-title":"Pediatric, Allergy, Immunology, and Pulmonology,"},{"issue":"5","key":"pone.0264177.ref128","first-page":"442","article-title":"Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome.","volume":"20","author":"A. Aghamohammadi","year":"2010","journal-title":"Journal of Investigational Allergology & Clinical Immunology"},{"issue":"4","key":"pone.0264177.ref129","first-page":"101","article-title":"Ataxia-telangiectasia in children","volume":"42","author":"S. Maqbool","year":"1992","journal-title":"JPMA\u2014Journal of the Pakistan Medical Association"},{"issue":"11\u201312","key":"pone.0264177.ref130","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/S0161-5890(98)90517-X","article-title":"Ataxia-Telangiectasia in Costa Rica: Clinical, laboratory and genetic characteristics","volume":"35","author":"O. Porras","year":"1998","journal-title":"Molecular Immunology"},{"issue":"1","key":"pone.0264177.ref131","first-page":"S42","article-title":"Ataxia-telangiectasia in rio grande do norte: Immunological and clinical features of 5 patients","volume":"37","author":"V.S.F. Sales","year":"2017","journal-title":"Journal of Clinical Immunology"},{"issue":"8\u20139","key":"pone.0264177.ref132","first-page":"511","article-title":"Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.","volume":"93","author":"L. Sfaihi","year":"2015","journal-title":"Tunisie Medicale"},{"issue":"5","key":"pone.0264177.ref133","first-page":"406","article-title":"Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome.","volume":"9","author":"A. Etzioni","year":"2007","journal-title":"Israel Medical Association Journal: Imaj"},{"key":"pone.0264177.ref134","first-page":"274","article-title":"Ataxia-telangiectasia presenting as hyper-immunoglobulin M syndrome","volume":"67","author":"R.N. Kalmarzi","year":"2012","journal-title":"Allergy"},{"issue":"5","key":"pone.0264177.ref135","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.pediatrneurol.2012.02.027","article-title":"Ataxia-telangiectasia presenting with a novel immunodeficiency","volume":"46","author":"S. Perreault","year":"2012","journal-title":"Pediatric Neurology"},{"issue":"2","key":"pone.0264177.ref136","first-page":"105","article-title":"Ataxia-telangiectasia: a clinical and laboratory review study of 14 cases","volume":"18","author":"J.S. Schwartzman","year":"1990","journal-title":"Allergologia et Immunopathologia"},{"issue":"2","key":"pone.0264177.ref137","first-page":"98","article-title":"Ataxia-telangiectasia: Case reports and literature review","volume":"21","author":"S. Chaouki","year":"2008","journal-title":"Journal de Pediatrie et de Puericulture"},{"issue":"16","key":"pone.0264177.ref138","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1002\/ajmg.a.31853","article-title":"Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype","volume":"143A","author":"N. Alterman","year":"2007","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"4","key":"pone.0264177.ref139","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s004150050210","article-title":"Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings","volume":"245","author":"A. Larnaout","year":"1998","journal-title":"Journal of Neurology"},{"key":"pone.0264177.ref140","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ijporl.2016.11.012","article-title":"Audiological findings in children with ataxia-telangiectasia (A-T) syndrome","volume":"92","author":"P.O. Afifi","year":"2017","journal-title":"International Journal of Pediatric Otorhinolaryngology"},{"issue":"4","key":"pone.0264177.ref141","first-page":"296","article-title":"Chronic childhood ataxia: ataxia-telangiectasia","volume":"15","author":"R. Al-Baradie","year":"2010","journal-title":"Neurosciences"},{"issue":"SUPPL. 2","key":"pone.0264177.ref142","first-page":"S189","article-title":"Clinical features of patients with ataxia-telangiectasia at reference center in Sao Paulo","volume":"5","author":"J. Matos","year":"2012","journal-title":"Brazil. World Allergy Organization Journal"},{"issue":"SUPPL. 2","key":"pone.0264177.ref143","doi-asserted-by":"crossref","first-page":"e153","DOI":"10.1016\/j.parkreldis.2015.10.359","article-title":"Clinical profile of hundred patients with ataxia telangiectasia from India","volume":"22","author":"M. Mahadevappa","year":"2016","journal-title":"Parkinsonism and Related Disorders"},{"issue":"SUPPL. 101","key":"pone.0264177.ref144","first-page":"215","article-title":"Clinico-radiological correlation in children with ataxia telangiectasia in Qatar","volume":"70","author":"M.S. Ehlayel","year":"2015","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref145","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1097\/00004728-198110000-00010","article-title":"Computed-Tomography in Ataxia-Telangiectasia","volume":"5","author":"V.J. Assencioferreira","year":"1981","journal-title":"Journal of Computer Assisted Tomography"},{"issue":"2","key":"pone.0264177.ref146","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1600-0897.2006.00409.x","article-title":"Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry","volume":"56","author":"N. Rezaei","year":"2006","journal-title":"American Journal of Reproductive Immunology"},{"issue":"1","key":"pone.0264177.ref147","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/BF02020844","article-title":"CT and MR imaging of splenic leiomyoma in a child with ataxia telangiectasia","volume":"25","author":"M. Coskun","year":"1995","journal-title":"Pediatric Radiology"},{"issue":"5","key":"pone.0264177.ref148","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1111\/j.1365-2230.1993.tb02251.x","article-title":"Cutaneous granuloma with ataxia telangiectasia\u2014a case report and review of literature","volume":"18","author":"R.K. Joshi","year":"1993","journal-title":"Clinical and Experimental Dermatology"},{"issue":"5","key":"pone.0264177.ref149","doi-asserted-by":"crossref","first-page":"555","DOI":"10.24953\/turkjped.2017.05.008","article-title":"Defective pneumococcal antibody response in patients with recurrent respiratory tract infections","volume":"59","author":"B. Erman","year":"2017","journal-title":"Turkish Journal of Pediatrics"},{"issue":"Supplement 105","key":"pone.0264177.ref150","first-page":"461","article-title":"MA, Delay diagnosis of ataxia-telangiectasia in a 13-year-old girl presenting as Cerebral Palsy and Hodgkin lymphoma","volume":"73","author":"A.E. Shafiei","year":"2019","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"key":"pone.0264177.ref151","article-title":"A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent","author":"S.D., S Das","year":"2019","journal-title":"International Parkinson and Movement Disorder Society"},{"issue":"2","key":"pone.0264177.ref152","first-page":"161","article-title":"Diagnosis of Ataxia-Telangiectasia\u2014Computed-Tomography and X-Ray-Sensitivity.","volume":"7","author":"Y. Katafuchi","year":"1985","journal-title":"Brain & Development"},{"issue":"5","key":"pone.0264177.ref153","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1007\/s10875-007-9101-3","article-title":"Distribution of primary immunodeficiency diseases in the Turk ethnic group, living in the northwestern Iran","volume":"27","author":"M.S. Shabestari","year":"2007","journal-title":"Journal of Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref154","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s10875-014-0044-1","article-title":"Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia","volume":"34","author":"M. Kraus","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"6262","key":"pone.0264177.ref155","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1136\/bmj.282.6262.425","article-title":"Epstein-Barr-virus-carrying lymphoma in a patient with ataxia-telangiectasia","volume":"282","author":"A.K. Saemundsen","year":"1981","journal-title":"British Medical Journal Clinical Research Ed"},{"issue":"3","key":"pone.0264177.ref156","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1111\/j.1365-2249.2011.04542.x","article-title":"The European internet-based patient and research database for primary immunodeficiencies: Update 2011.","volume":"167","author":"B. Gathmann","year":"2012","journal-title":"Clinical and Experimental Immunology"},{"issue":"4","key":"pone.0264177.ref157","doi-asserted-by":"crossref","first-page":"336","DOI":"10.5114\/ceji.2017.72825","article-title":"Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency","volume":"42","author":"S. Bazregari","year":"2017","journal-title":"Central European Journal of Immunology"},{"issue":"SUPPL. 1","key":"pone.0264177.ref158","first-page":"S398","article-title":"Family case of ataxiatelangiectasiya","volume":"32","author":"G. Nasrullayeva","year":"2012","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref159","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1136\/jmg.30.2.135","article-title":"A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23","volume":"30","author":"D. Hernandez","year":"1993","journal-title":"Journal of Medical Genetics"},{"issue":"3","key":"pone.0264177.ref160","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1007\/s10875-012-9654-7","article-title":"Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia","volume":"32","author":"S. Ghosh","year":"2012","journal-title":"Journal of Clinical Immunology"},{"issue":"10","key":"pone.0264177.ref161","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1002\/ppul.21291","article-title":", The feasibility and validity of forced spirometry in ataxia telangiectasia.","volume":"45","author":"D. Vilozni","year":"2010","journal-title":"Pediatric Pulmonology"},{"issue":"4","key":"pone.0264177.ref162","first-page":"459","article-title":"First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998\u20132012).","volume":"34","author":"A.A. Bousfiha","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref163","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.clim.2010.02.021","article-title":"The French national registry of primary immunodeficiency diseases","volume":"135","author":"Anonymous","year":"2010","journal-title":"Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref164","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1007\/s10875-006-9047-x","article-title":"Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry","volume":"26","author":"N. Rezaei","year":"2006","journal-title":"Journal of Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref165","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1046\/j.1365-2133.1998.02432.x","article-title":"Granulomatous skin lesions in a patient with ataxia telangiectasia","volume":"139","author":"N. Senturk","year":"1998","journal-title":"British Journal of Dermatology"},{"issue":"3","key":"pone.0264177.ref166","first-page":"113","article-title":"Hemophagocytic lymphohistiocytosis associated with ataxia telangiectasia","volume":"4","author":"M. Alsalamah","year":"2017","journal-title":"LymphoSign Journal"},{"issue":"3","key":"pone.0264177.ref167","first-page":"1539","article-title":"Histopathologic Findings in a Fetus with Prenatally Diagnosed Ataxia-Telangiectasia","volume":"53","author":"L. Chessa","year":"1993","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"pone.0264177.ref168","first-page":"A50","article-title":"Humoral and cell-mediated immunity in two brothers with ataxia-telangiectasia.","volume":"100","author":"N.J. Nam","year":"2008","journal-title":"Annals of Allergy Asthma & Immunology"},{"issue":"7","key":"pone.0264177.ref169","first-page":"681","article-title":"Leukemia lymphoma T-cell as first manifestation of ataxia-telangiectasia","volume":"3","author":"C. de Laet","year":"1996","journal-title":"Archives de Pediatrie"},{"issue":"9","key":"pone.0264177.ref170","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1136\/adc.2003.046433","article-title":"Life through the eyes of a disabled person","volume":"89","author":"C. Marshall","year":"2004","journal-title":"Archives of Disease in Childhood"},{"issue":"11","key":"pone.0264177.ref171","first-page":"666","article-title":", Louis-Bar syndrome of ataxia telangiectasia in consanguinous family.","volume":"61","author":"E. Seemanova","year":"2006","journal-title":"Cesko Slovenska Pediatrie"},{"key":"pone.0264177.ref172","first-page":"S408","article-title":"A mild form of ataxia-telangiectasia without telangiectasia caused by a novel mutation in the ATM gene","volume":"21","author":"K. Nguyen","year":"2006","journal-title":"Movement Disorders"},{"issue":"11","key":"pone.0264177.ref173","doi-asserted-by":"crossref","first-page":"501A","DOI":"10.1182\/blood.V110.11.1680.1680","article-title":"Molecular characterization of a prototype family harboring two genomic instability disorders: Ataxia telangiectasia and fanconi anemia","volume":"110","author":"G. Balta","year":"2007","journal-title":"Blood"},{"issue":"2","key":"pone.0264177.ref174","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1007\/s12017-013-8218-1","article-title":"Molecular defects in Moroccan patients with ataxia-telangiectasia.","volume":"15","author":"L. Jeddane","year":"2013","journal-title":"NeuroMolecular Medicine"},{"issue":"2","key":"pone.0264177.ref175","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.jaci.2011.03.052","article-title":"Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.","volume":"128","author":"R. Micol","year":"2011","journal-title":"Journal of Allergy & Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref176","first-page":"1073","article-title":"Neurofibromatosis type-1 in a patient with ataxia-telangiectasia","volume":"13","author":"S. Kupeli","journal-title":"Journal of Cancer Research and Therapeutics, 1073"},{"issue":"7","key":"pone.0264177.ref177","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s00251-017-0983-9","article-title":"A new ataxia-telangiectasia mutation in an 11-year-old female","volume":"69","author":"E. Mortaz","year":"2017","journal-title":"Immunogenetics"},{"issue":"Suppl 1","key":"pone.0264177.ref178","doi-asserted-by":"crossref","first-page":"S223","DOI":"10.1002\/humu.1380110172","article-title":"Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia.","author":"T. Fukao","year":"1998","journal-title":"Human Mutation"},{"key":"pone.0264177.ref179","article-title":", A novel intronic ATM gene mutation affecting splicing in a patient with Ataxia-Telangiectasia","author":"E.T., A Ates","year":"2019","journal-title":"European Journal of Human Genetics"},{"issue":"1","key":"pone.0264177.ref180","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1007\/s00415-012-6738-5","article-title":"Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia","volume":"260","author":"G. Landoure","year":"2013","journal-title":"Journal of Neurology"},{"issue":"4","key":"pone.0264177.ref181","article-title":";A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia","volume":"12","author":"K.S.G., N Saeidi","year":"2018","journal-title":"Iranian Journla of Child Neurology"},{"issue":"7","key":"pone.0264177.ref182","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1007\/s10875-016-0314-1","article-title":"Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital\u2019s 5-Year Experience","volume":"36","author":"N. Galal","year":"2016","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref183","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/humu.9107","article-title":"Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation","volume":"21","author":"S. Angele","year":"2003","journal-title":"Human Mutation"},{"issue":"2","key":"pone.0264177.ref184","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1046\/j.1365-2133.2001.04029.x","article-title":"Pigmentary anomalies in ataxia\u2014telangiectasia: a clue to diagnosis and an example of twin spotting","volume":"144","author":"N.P. Khumalo","year":"2001","journal-title":"British Journal of Dermatology"},{"issue":"1","key":"pone.0264177.ref185","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1186\/s12884-018-1927-6","article-title":"Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series.","volume":"18","author":"S. Sheikhbahaei","year":"2018","journal-title":"BMC Pregnancy Childbirth"},{"issue":"Pt 4","key":"pone.0264177.ref186","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1093\/brain\/108.4.831","article-title":"Prevalence and pattern of spinocerebellar degenerations in northeastern Libya","volume":"108","author":"R. Sridharan","year":"1985","journal-title":"Brain"},{"issue":"3","key":"pone.0264177.ref187","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s10875-008-9260-x","article-title":"Primary immunodeficiency diseases in Egyptian children: A single-center study","volume":"29","author":"S.M. Reda","year":"2009","journal-title":"Journal of Clinical Immunology"},{"issue":"7","key":"pone.0264177.ref188","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1007\/s10875-015-0197-6","article-title":", Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010\u20132013).","volume":"35","author":"B. Al-Saud","year":"2015","journal-title":"Journal of Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref189","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1023\/A:1020660416865","article-title":"Primary immunodeficiency in Iran: first report of the National Registry of PID in Children and Adults","volume":"22","author":"A. Aghamohammadi","year":"2002","journal-title":"Journal of Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref190","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1093\/oxfordjournals.eurheartj.a014986","article-title":"Pulmonary valve stenosis in a patient with ataxia telangiectasia","volume":"17","author":"M. Ruggieri","year":"1996","journal-title":"European Heart Journal"},{"issue":"6","key":"pone.0264177.ref191","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1002\/cyto.a.20566","article-title":"A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.","volume":"73","author":"P. Porcedda","year":"2008","journal-title":"Cytometry Part A: The Journal of the International Society for Analytical Cytology"},{"issue":"9","key":"pone.0264177.ref192","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1002\/pd.1787","article-title":"Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis","volume":"27","author":"E. Mancebo","year":"2007","journal-title":"Prenatal Diagnosis"},{"issue":"4","key":"pone.0264177.ref193","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/j.pediatrneurol.2014.06.022","article-title":"A rare case of ataxia telangiectasia in a 9-year-old female child","volume":"51","author":"J. Nagasravani","year":"2014","journal-title":"Pediatric Neurology"},{"issue":"1","key":"pone.0264177.ref194","first-page":"33","article-title":"Report of a family with Fanconi anemia and ataxia-telangiectasia","volume":"21","author":"T. Patiroglu","year":"2004","journal-title":"Turkish Journal of Haematology"},{"issue":"3","key":"pone.0264177.ref195","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/ppul.21095","article-title":"Reversible airway obstruction in children with ataxia telangiectasia.","volume":"45","author":"Y. Berkun","year":"2010","journal-title":"Pediatric Pulmonology"},{"issue":"6","key":"pone.0264177.ref196","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/j.jaci.2008.07.005","article-title":"Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.","volume":"122","author":"M. Ehlayel","year":"2008","journal-title":"Journal of Allergy & Clinical Immunology"},{"key":"pone.0264177.ref197","first-page":"405","article-title":"Skin ulcers leading to residual hypo pigmented lesions with failure to thrive in ataxia telangiectasia case: A case report","author":"M. Adeli","year":"2018","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref198","first-page":"S173","article-title":", The spectrum of clinical profile of patients with ataxia telengiectasia: A case series from nims.","author":"S. Yareeda","year":"2014","journal-title":"Annals of Indian Academy of Neurology"},{"issue":"1","key":"pone.0264177.ref199","article-title":"Spectrum of primary immunodeficiency disorders in Sri Lanka","volume":"9","author":"N.R. De Silva","year":"2013","journal-title":"Allergy, Asthma and Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref200","first-page":"376","article-title":"Transfer factor therapy in ataxia\u2014telangiectasia.","volume":"29","author":"A.I. Berkel","year":"1977","journal-title":"Clinical & Experimental Immunology"},{"issue":"4","key":"pone.0264177.ref201","first-page":"205","article-title":"Twenty-year follow-up of 160 patients with ataxia-telangiectasia","volume":"33","author":"F. Ersoy","year":"1991","journal-title":"Turkish Journal of Pediatrics"},{"issue":"967","key":"pone.0264177.ref202","article-title":"Unsteady gait\u2014Ataxia-telangiectasia","volume":"82","year":"2006","journal-title":"Postgraduate Medical Journal"},{"issue":"4","key":"pone.0264177.ref203","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1034\/j.1399-3038.2003.00037.x","article-title":"Unusual and severe disease course in a child with ataxia-telangiectasia.","volume":"14","author":"I. Meyts","year":"2003","journal-title":"Pediatric Allergy & Immunology"},{"issue":"7","key":"pone.0264177.ref204","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/j.1399-3038.2005.00323.x","article-title":"Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.","volume":"16","author":"G. Claret Teruel","year":"2005","journal-title":"Pediatric Allergy & Immunology"},{"issue":"6","key":"pone.0264177.ref205","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1111\/pai.13461","article-title":"The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia","volume":"32","author":"P. Amirifar","year":"2021","journal-title":"Pediatr Allergy Immunol"},{"issue":"1","key":"pone.0264177.ref206","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1002\/ccr3.3581","article-title":"Clinical complications and their management in a child with ataxia-telangiectasia (A-T): A case report study.","volume":"9","author":"M.H. Arani","year":"2021","journal-title":"Clinical Case Reports"},{"issue":"10","key":"pone.0264177.ref207","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.29271\/jcpsp.2020.10.1102","article-title":"Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years.","volume":"30","author":"W.N. Asmari","year":"2020","journal-title":"J Coll Physicians Surg Pak"},{"issue":"2","key":"pone.0264177.ref208","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1002\/ccr3.3543","article-title":"Identifying ataxia-telangiectasia in cancer patients: Novel insights from an interesting case and review of literature","volume":"9","author":"J. Cao","year":"2021","journal-title":"Clin Case Rep"},{"issue":"5","key":"pone.0264177.ref209","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1111\/pai.13231","article-title":"The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study","volume":"31","author":"S. Cekic","year":"2020","journal-title":"Pediatr Allergy Immunol"},{"issue":"3","key":"pone.0264177.ref210","first-page":"511","article-title":"Cutaneous granulomas in a child with Ataxia telangiectasia\u2014A rare association","volume":"30","author":"S. Dewang","year":"2021","journal-title":"Journal of Pakistan Association of Dermatologists"},{"issue":"1","key":"pone.0264177.ref211","doi-asserted-by":"crossref","first-page":"38","DOI":"10.21911\/aai.523","article-title":"Does the hyper igm phenotype affect prognosis in ataxia telangiectasia?","volume":"18","author":"Z.S. Haskologlu","year":"2020","journal-title":"Asthma Allergy Immunology"},{"issue":"1","key":"pone.0264177.ref212","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1186\/s12920-021-01053-3","article-title":"Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report","volume":"14","author":"H.Y. Lee","year":"2021","journal-title":"BMC Med Genomics"},{"issue":"1","key":"pone.0264177.ref213","doi-asserted-by":"crossref","first-page":"33","DOI":"10.4103\/AOMD.AOMD_28_19","article-title":"A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center","volume":"3","author":"M. Mahadevappa","year":"2020","journal-title":"Annals of Movement Disorders"},{"key":"pone.0264177.ref214","article-title":";, Ataxia Telangiectasia and Common Variable Immunodeficiency with B-cell Lymphoma in Adolescent","author":"W.B., L Marquez","year":"2019","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref215","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.4103\/jfmpc.jfmpc_1095_19","article-title":"Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated","volume":"9","author":"M.G. Mathew","year":"2020","journal-title":"J Family Med Prim Care"},{"issue":"6","key":"pone.0264177.ref216","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1002\/mdc3.13013","article-title":"Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again","volume":"7","author":"J. Perez Maturo","year":"2020","journal-title":"Mov Disord Clin Pract"},{"issue":"2","key":"pone.0264177.ref217","first-page":"57","article-title":"An atypical presentation of ataxia telangiectasia in a school-aged boy secondary to an intronic mutation","volume":"7","author":"O. Scott","year":"2020","journal-title":"Lymphosign Journal-the Journal of Inherited Immune Disorders"},{"issue":"1","key":"pone.0264177.ref218","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1007\/s10875-020-00881-9","article-title":"Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia","volume":"41","author":"T.M. Shad","year":"2021","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref219","doi-asserted-by":"crossref","first-page":"570330","DOI":"10.3389\/fped.2020.570330","article-title":"Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report","volume":"8","author":"A. Szczawi\u0144ska-Pop\u0142onyk","year":"2020","journal-title":"Front Pediatr"},{"issue":"Supplement 1","key":"pone.0264177.ref220","doi-asserted-by":"crossref","first-page":"S272","DOI":"10.1016\/S2152-2650(20)30888-0","article-title":"ABCL-311: The Burden of Non-Hodgkin Lymphoma Developed in an Ataxia Telangiectasia Child. Clinical Lymphoma","volume":"20","author":"C. Tomacinschii","year":"2020","journal-title":"Myeloma and Leukemia"},{"issue":"2","key":"pone.0264177.ref221","first-page":"200","article-title":"8-year experience with ataxia telangiectasia: A series of 7 cases. Romanian Journal of Neurology\/","volume":"20","author":"N. Villagaray-Pacheco","year":"2021","journal-title":"Revista Romana de Neurologie"},{"issue":"3","key":"pone.0264177.ref222","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S1081-1206(10)62812-8","article-title":"A 7-year-old girl with cerebral palsy and multiple warts.,","volume":"81","author":"A.H. Nowak-Wegrzyn","year":"1998","journal-title":"Annals of Allergy, Asthma and Immunology"},{"issue":"12","key":"pone.0264177.ref223","first-page":"1278","article-title":"Ataxia telangiectasia.","volume":"36","author":"V. Datta","year":"1999","journal-title":"Indian Pediatrics"},{"issue":"5","key":"pone.0264177.ref224","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1177\/003591577006300512","article-title":"Ataxia telangiectasia.","volume":"63","author":"R. Tattersall","year":"1970","journal-title":"Proceedings of the Royal Society of Medicine"},{"issue":"3","key":"pone.0264177.ref225","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S0303-8467(87)80045-8","article-title":"Ataxia telangiectasia in Chinese children. A clinical and electrophysiological study","volume":"89","author":"V. Wong","year":"1987","journal-title":"Clinical Neurology & Neurosurgery"},{"key":"pone.0264177.ref226","doi-asserted-by":"crossref","first-page":"783","DOI":"10.12659\/AJCR.903592","article-title":"Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.","volume":"18","author":"S. Rondon-Melo","year":"2017","journal-title":"The American Journal of Case Reports"},{"issue":"13","key":"pone.0264177.ref227","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1212\/WNL.0b013e3182a55fa2","article-title":"Ataxia telangiectasia presenting as dopa-responsive cervical dystonia","volume":"81","author":"G. Charlesworth","year":"2013","journal-title":"Neurology"},{"issue":"3","key":"pone.0264177.ref228","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.anai.2016.07.028","article-title":", Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs.","volume":"117","author":"A. Doshi","year":"2016","journal-title":"Annals of Allergy, Asthma, & Immunology"},{"issue":"2","key":"pone.0264177.ref229","first-page":"257","article-title":"Ataxia telangiectasia with acute lymphoblastic leukemia","volume":"30","author":"S.R. Rao","year":"1993","journal-title":"Indian Pediatrics"},{"issue":"2","key":"pone.0264177.ref230","doi-asserted-by":"crossref","first-page":"138","DOI":"10.3126\/jnps.v34i2.9694","article-title":"Ataxia telangiectasia: Case report from a rural hospital in Nepal and current management recommendation","volume":"34","author":"S.M. George","year":"2014","journal-title":"Journal of Nepal Paediatric Society"},{"key":"pone.0264177.ref231","first-page":"1106","article-title":"Ataxia-Telangiectasia","volume":"91","author":"H.G. Dunn","year":"1964","journal-title":"Canadian Medical Association Journal"},{"issue":"2","key":"pone.0264177.ref232","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1651-2227.1966.tb15232.x","article-title":"Ataxia-Telangiectasia","volume":"55","author":"B. Smeby","year":"1966","journal-title":"Acta Paediatrica Scandinavica"},{"issue":"2","key":"pone.0264177.ref233","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000228","article-title":"Ataxia-telangiectasia A new remitting form with a peculiar transcriptome signature","volume":"4","author":"V. Leuzzi","year":"2018","journal-title":"Neurology-Genetics"},{"issue":"25","key":"pone.0264177.ref234","first-page":"581","article-title":"Ataxia-Telangiectasia in Children","volume":"34","author":"R.G. Siekert","year":"1959","journal-title":"Proceedings of the Staff Meetings of the Mayo Clinic"},{"issue":"5","key":"pone.0264177.ref235","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/(SICI)1098-1004(1998)12:5<338::AID-HUMU7>3.0.CO;2-9","article-title":"Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T\u2014>A, and 7883del5, the latter two being relatively common mutations","volume":"12","author":"T. Fukao","year":"1998","journal-title":"Human Mutation"},{"key":"pone.0264177.ref236","doi-asserted-by":"crossref","first-page":"631","DOI":"10.12659\/AJCR.893995","article-title":"Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report","volume":"16","author":"M. Navratil","year":"2015","journal-title":"The American Journal of Case Reports"},{"issue":"3","key":"pone.0264177.ref237","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/0022-510X(69)90012-4","article-title":"Ataxia-telangiectasia with absence of IgG","volume":"8","author":"A. Gimeno","year":"1969","journal-title":"Journal of the Neurological Sciences"},{"issue":"2","key":"pone.0264177.ref238","first-page":"106","article-title":"Ataxica telengiectasia (Louis-Bar syndrome)","volume":"99","author":"H. Datta","year":"2001","journal-title":"Journal of the Indian Medical Association"},{"key":"pone.0264177.ref239","article-title":"Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?","author":"F.D. Aygun","year":"2015","journal-title":"Case Reports in Pediatrics"},{"issue":"7","key":"pone.0264177.ref240","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/j.braindev.2017.02.007","article-title":"Brain edema with clasmatodendrosis complicating ataxia telangiectasia.","volume":"39","author":"K. Shimoda","year":"2017","journal-title":"Brain & Development"},{"key":"pone.0264177.ref241","first-page":"2016","article-title":"A call for an early clinical consideration for ataxia-telangiectasia in infants with low TREC and combined immunodeficiency","author":"R. Greemberg","year":"2016","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref242","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1111\/j.1600-0404.1966.tb01187.x","article-title":"A case of ataxia-telangiectasia with lesions in the spinal cord","volume":"42","author":"P. Sourander","year":"1966","journal-title":"Acta Neurologica Scandinavica"},{"issue":"11\u201312","key":"pone.0264177.ref243","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/S0161-5890(98)90408-4","article-title":"Case Report: Ataxia telangiectasia with hyper IgM (ATM) with a complicated clinical course and a hepatic malignancy","volume":"35","author":"V. Monafo","year":"1998","journal-title":"Molecular Immunology"},{"key":"pone.0264177.ref244","first-page":"S29","article-title":"Case Report: Novel Mutations Detected in ATM Gene in a 10 Years Old Girl with Ataxia Telangiectasia in Colombia","volume":"35","author":"J.A. Patino-Nino","year":"2015","journal-title":"Journal of Clinical Immunology"},{"issue":"7","key":"pone.0264177.ref245","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1007\/s00415-015-7762-z","article-title":"Clinical variability in ataxia\u2013telangiectasia","volume":"262","author":"E. Lohmann","year":"2015","journal-title":"Journal of Neurology"},{"issue":"5","key":"pone.0264177.ref246","first-page":"A95","article-title":"Cutaneous granulomas presenting as primary immune deficiency","volume":"111","author":"G. Ram","year":"2013","journal-title":"Annals of Allergy, Asthma and Immunology"},{"key":"pone.0264177.ref247","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1824-7288-36-29","article-title":"Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report","volume":"36","author":"L. Folgori","year":"2010","journal-title":"Italian Journal of Pediatrics"},{"issue":"2","key":"pone.0264177.ref248","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/S0165-4608(96)00256-7","article-title":"Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years. Cancer Genetics &","volume":"95","author":"M. Renedo","year":"1997","journal-title":"Cytogenetics"},{"issue":"1","key":"pone.0264177.ref249","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1055\/s-2008-1076736","article-title":"Different clinical and immunological presentation of ataxia-telangiectasia within the same family","volume":"39","author":"A. Soresina","year":"2008","journal-title":"Neuropediatrics"},{"issue":"2","key":"pone.0264177.ref250","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s004390050675","article-title":"A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia","volume":"102","author":"M.J. van Belzen","year":"1998","journal-title":"Human Genetics"},{"issue":"2","key":"pone.0264177.ref251","first-page":"187","article-title":"Dystonia as presenting manifestation of ataxia telangiectasia: a case report","volume":"50","author":"V. Goyal","year":"2002","journal-title":"Neurology India"},{"issue":"5","key":"pone.0264177.ref252","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1002\/1097-0142(19820901)50:5<877::AID-CNCR2820500513>3.0.CO;2-U","article-title":"The effects of radiation therapy for Hodgkin\u2019s disease in a child with ataxia telangiectasia: a clinical, biological and pathologic study","volume":"50","author":"J. Pritchard","year":"1982","journal-title":"Cancer"},{"issue":"10","key":"pone.0264177.ref253","first-page":"645","article-title":"A Genetic-Study of Classical Ataxia Telangiectasia","volume":"27","author":"C.G. Woods","year":"1990","journal-title":"Journal of Medical Genetics"},{"issue":"5","key":"pone.0264177.ref254","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1212\/WNL.19.5.446","article-title":"Histopathologic brain changes in association with ataxia-telangiectasia","volume":"19","author":"K.L. Terplan","year":"1969","journal-title":"Neurology"},{"issue":"5","key":"pone.0264177.ref255","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1002\/ppul.10057","article-title":"Hodgkin\u2019s disease and ataxia telangiectasia with pulmonary cavities.","volume":"33","author":"B. Yalcin","year":"2002","journal-title":"Pediatric Pulmonology"},{"issue":"7","key":"pone.0264177.ref256","first-page":"7686","article-title":"A homozygous nonsense mutation of ATM gene in a Chinese family with five ataxia telangiectasia children: lesson for prenatal diagnosis","volume":"9","author":"S.H. An","year":"2016","journal-title":"International Journal of Clinical and Experimental Pathology"},{"issue":"3","key":"pone.0264177.ref257","doi-asserted-by":"crossref","first-page":"217","DOI":"10.3343\/alm.2013.33.3.217","article-title":"Identification of ATM mutations in Korean siblings with ataxia-telangiectasia","volume":"33","author":"H.J. Huh","year":"2013","journal-title":"Annals of Laboratory Medicine"},{"issue":"1","key":"pone.0264177.ref258","first-page":"32","article-title":"Impaired autologous mixed lymphocyte reaction (AMLR) in patients with ataxia-telangiectasia and their family members","volume":"74","author":"N. Lahat","year":"1988","journal-title":"Clinical & Experimental Immunology"},{"issue":"6","key":"pone.0264177.ref259","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1067\/mpd.2001.113356","article-title":"Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia","volume":"138","author":"N. Tangsinmankong","year":"2001","journal-title":"Journal of Pediatrics"},{"key":"pone.0264177.ref260","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13052-015-0125-7","article-title":"Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin","volume":"41","author":"N. Cantarutti","year":"2015","journal-title":"Italian Journal of Pediatrics"},{"key":"pone.0264177.ref261","article-title":"Myoclonus in ataxia-telangiectasia","author":"P. Termsarasab","year":"2015","journal-title":"Tremor and Other Hyperkinetic Movements"},{"issue":"7","key":"pone.0264177.ref262","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/BF01954092","article-title":"Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients","volume":"152","author":"V. Leuzzi","year":"1993","journal-title":"European Journal of Pediatrics"},{"issue":"4","key":"pone.0264177.ref263","first-page":"524","article-title":"New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case","volume":"88","author":"F. Ruiz-Botero","year":"2017","journal-title":"Revista Chilena de Pediatria"},{"issue":"3","key":"pone.0264177.ref264","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1007\/s10875-012-9846-1","article-title":"Newborn screening for SCID identifies patients with ataxia telangiectasia","volume":"33","author":"J. Mallott","year":"2013","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref265","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.neulet.2015.11.036","article-title":"Novel ATM mutations with ataxia-telangiectasia","volume":"611","author":"X.L. Liu","year":"2016","journal-title":"Neuroscience Letters"},{"key":"pone.0264177.ref266","article-title":"Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T.","author":"W.L., SD Chen","year":"2019","journal-title":"Molecular Medicine Reports"},{"issue":"3","key":"pone.0264177.ref267","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1046\/j.1365-2249.2001.01452.x","article-title":"Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.","volume":"123","author":"M.A. Garcia-Perez","year":"2001","journal-title":"Clinical & Experimental Immunology"},{"issue":"3","key":"pone.0264177.ref268","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/j.1442-9071.1992.tb00938.x","article-title":"The Objective Assessment of Abnormal Eye-Movements in Infants and Young-Children.","volume":"20","author":"M. Jacobs","year":"1992","journal-title":"Australian and New Zealand Journal of Ophthalmology"},{"key":"pone.0264177.ref269","article-title":"A precocious cerebellar ataxia and frequent fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome","author":"L. Nespoli","year":"2013","journal-title":"Case Reports in Immunology"},{"key":"pone.0264177.ref270","doi-asserted-by":"crossref","first-page":"2495","DOI":"10.3389\/fimmu.2018.02495","article-title":"Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.","volume":"9","author":"S. Bakhtiar","year":"2018","journal-title":"Front Immunol"},{"issue":"569","key":"pone.0264177.ref271","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1259\/0007-1285-48-569-374","article-title":"Radiosensitivity in ataxia-telangiectasia","volume":"48","author":"P.N. Cunlift","year":"1975","journal-title":"British Journal of Radiology"},{"issue":"1","key":"pone.0264177.ref272","doi-asserted-by":"crossref","first-page":"154","DOI":"10.3329\/bjms.v16i1.31151","article-title":"A rare case of ataxia telangiectasia in Malaysia","volume":"16","author":"N.S.M. Ashari","year":"2017","journal-title":"Bangladesh Journal of Medical Science"},{"issue":"1","key":"pone.0264177.ref273","doi-asserted-by":"crossref","first-page":"169","DOI":"10.4103\/0028-3886.198206","article-title":"Refractory status dystonicus in ataxia telangiectasia","volume":"65","author":"S. Ray","year":"2017","journal-title":"Neurology India"},{"key":"pone.0264177.ref274","first-page":"167","article-title":"Segmental pigmentary anomaly and ataxia telangiectasia","author":"D. Jain","year":"2015","journal-title":"British Journal of Dermatology"},{"issue":"3","key":"pone.0264177.ref275","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1136\/jmg.12.3.251","article-title":"Specific Chromosome-Aberrations in Ataxia Telangiectasia","volume":"12","author":"J.M. Oxford","year":"1975","journal-title":"Journal of Medical Genetics"},{"issue":"2","key":"pone.0264177.ref276","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1620\/tjem.121.127","article-title":"Stomach cancer of a 14-year-old boy with ataxia-telangiectasia","volume":"121","author":"A. Watanabe","year":"1977","journal-title":"Tohoku Journal of Experimental Medicine"},{"issue":"10","key":"pone.0264177.ref277","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1097\/MPH.0b013e31814d67f4","article-title":"T-cell acute lymphoblastic leukemia in a child with ataxia-telangiectasia: case report","volume":"29","author":"D. Janic","year":"2007","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"4","key":"pone.0264177.ref278","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.jpeds.2003.12.046","article-title":"Immunodeficiency and infections in ataxia-telangiectasia","volume":"144","author":"A. Nowak-Wegrzyn","year":"2004","journal-title":"Journal of Pediatrics"},{"issue":"3","key":"pone.0264177.ref279","first-page":"305","article-title":"Abnormal collagen in ataxia telangiectasia","volume":"130","author":"E.W. McReynolds","year":"1976","journal-title":"American Journal of Diseases of Children"},{"issue":"5","key":"pone.0264177.ref280","first-page":"217","article-title":"Acute lymphoblastic leukemia in sibblings with progressive cerebellar ataxia (Louis-Bar syndrome)","volume":"94","author":"F. Lampert","year":"1969","journal-title":"Deutsche Medizinische Wochenschrift,"},{"issue":"6","key":"pone.0264177.ref281","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1002\/(SICI)1097-0339(199712)17:6<484::AID-DC21>3.0.CO;2-H","article-title":"Aneuploid nucleomegaly of bronchial cells in ataxia-telangiectasia: cytologic recognition in bronchial brushings.","volume":"17","author":"M.C. Cohen","year":"1997","journal-title":"Diagnostic Cytopathology,"},{"issue":"6","key":"pone.0264177.ref282","first-page":"538","article-title":"Ataxia telangiectasia and growth failure.","volume":"122","author":"J.J. Gershanik","year":"1971","journal-title":"American Journal of Diseases of Children"},{"issue":"1","key":"pone.0264177.ref283","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0165-5876(96)01373-0","article-title":"Ataxia telangiectasia and mucoepidermoid carcinoma of the parotid gland: a case report.","volume":"37","author":"A.S. Hosal","year":"1996","journal-title":"International Journal of Pediatric Otorhinolaryngology"},{"issue":"7344","key":"pone.0264177.ref284","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/S0140-6736(64)91210-3","article-title":"Ataxia Telangiectasis. A Dysgammaglobulinaemia with Deficient Gamma-1-a (Beta-2-a)-Globulin","volume":"1","author":"P. Fireman","year":"1964","journal-title":"Lancet"},{"issue":"5","key":"pone.0264177.ref285","first-page":"616","article-title":"Ataxia Telangiectasia in 2 Slibs\u2014with an Immunological Study of Patients and Their Family.","volume":"8","author":"T. Ogawa","year":"1966","journal-title":"Developmental Medicine and Child Neurology"},{"issue":"5","key":"pone.0264177.ref286","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/BF00314163","article-title":"Ataxia telangiectasia in identical twins: unusual features.","volume":"233","author":"C.M. Meshram","year":"1986","journal-title":"Journal of Neurology,"},{"issue":"298","key":"pone.0264177.ref287","first-page":"169","article-title":"Ataxia telangiectasis in the British Isles: The clinical and laboratory features of 70 affected individuals.","volume":"82","author":"C.G. Woods","year":"1992","journal-title":"Quarterly Journal of Medicine"},{"issue":"5","key":"pone.0264177.ref288","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1542\/peds.37.5.776","article-title":"Ataxia telangiectasia with cerebellar tumor.","volume":"37","author":"J. Shuster","year":"1966","journal-title":"Pediatrics,"},{"issue":"2","key":"pone.0264177.ref289","first-page":"330","article-title":"Ataxia Telangiectasia With Hyper IgM Immunophenotype, Chronic Hepatosplenomegaly, Lymphocytic Pneumonitis, and Enteropathy.","volume":"135","author":"A. Zeft","year":"2010","journal-title":"Clinical Immunology"},{"issue":"4","key":"pone.0264177.ref290","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/S0967-5868(98)90295-8","article-title":"Ataxia telangiectasia with long survival","volume":"5","author":"K. Opeskin","year":"1998","journal-title":"Journal of Clinical Neuroscience"},{"key":"pone.0264177.ref291","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1001\/archneur.1963.00460030102010","article-title":"Ataxia-telangiectasia associated with hypogammaglobulinemia","volume":"8","author":"L. Gutmann","year":"1963","journal-title":"Archives of Neurology"},{"issue":"8","key":"pone.0264177.ref292","first-page":"324","article-title":"Ataxia-telangiectasia in brother and sister","volume":"7","author":"V.B. Penchaszadeh","year":"1971","journal-title":"Birth Defects: Original Article Series"},{"issue":"4","key":"pone.0264177.ref293","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/S0190-9622(85)70094-1","article-title":"Ataxia-telangiectasia or Louis-Bar syndrome","volume":"12","author":"L.L. Smith","year":"1985","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"6","key":"pone.0264177.ref294","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1136\/adc.2008.149351","article-title":"Ataxia-telangiectasia patients presenting with hyper-IgM syndrome","volume":"94","author":"J.G. Noordzij","year":"2009","journal-title":"Archives of Disease in Childhood"},{"issue":"10","key":"pone.0264177.ref295","first-page":"1459","article-title":"Ataxia-telangiectasia syndrome in 2 siblings","volume":"63","author":"L. Kumar","year":"1975","journal-title":"Indian Journal of Medical Research"},{"issue":"10","key":"pone.0264177.ref296","doi-asserted-by":"crossref","first-page":"1884","DOI":"10.1001\/jama.1969.03160360030006","article-title":"Ataxia-telangiectasia with gastric adenocarcinoma","volume":"210","author":"A.F. Haerer","year":"1969","journal-title":"JAMA"},{"issue":"2","key":"pone.0264177.ref297","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1590\/S0004-282X1979000200006","article-title":"Ataxia-telangiectasia. Report of 4 cases","volume":"37","author":"J.C. Brito","year":"1979","journal-title":"Arquivos de Neuro-Psiquiatria"},{"issue":"2","key":"pone.0264177.ref298","doi-asserted-by":"crossref","first-page":"297","DOI":"10.2214\/ajr.120.2.297","article-title":"Ataxia-telangiectasia: chronic pneumonia, sinusitis, and adenoidal hypoplasia","volume":"120","author":"M.B. Ozonoff","year":"1974","journal-title":"American Journal of Roentgenology, Radium Therapy & Nuclear Medicine"},{"issue":"5","key":"pone.0264177.ref299","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1097\/00004728-199409000-00008","article-title":"Ataxia-telangiectasia: MR and CT findings.","volume":"18","author":"L. Farina","year":"1994","journal-title":"Journal of Computer Assisted Tomography,"},{"issue":"1","key":"pone.0264177.ref300","first-page":"A211","article-title":"Atypical Ataxia Telangiectasia\u2014an Expanding Spectrum of Disorders.","volume":"35","author":"C.J.R. Curry","year":"1987","journal-title":"Clinical Research,"},{"issue":"5","key":"pone.0264177.ref301","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1182\/blood.V52.5.1003.1003","article-title":"Atypical lymphoid leukemia in ataxia telangiectasia.","volume":"52","author":"R. Levitt","year":"1978","journal-title":"Blood"},{"issue":"2","key":"pone.0264177.ref302","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/BF01008034","article-title":", Bronchiolitis obliterans in ataxia-telangiectasia.","volume":"430","author":"M. Ito","year":"1997","journal-title":"Virchows Archiv"},{"issue":"2","key":"pone.0264177.ref303","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1093\/jnci\/93.2.121","article-title":"Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries.","volume":"93","author":"J.H. Olsen","year":"2001","journal-title":"Journal of the National Cancer Institute"},{"issue":"3","key":"pone.0264177.ref304","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1007\/s12017-011-8152-z","article-title":"Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.","volume":"13","author":"J. Soukupova","year":"2011","journal-title":"NeuroMolecular Medicine"},{"issue":"3","key":"pone.0264177.ref305","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/S0022-3476(80)80200-9","article-title":"Chromosome 7 in ataxia-telangiectasia.","volume":"97","author":"J.M. Scheres","year":"1980","journal-title":"Journal of Pediatrics"},{"issue":"6","key":"pone.0264177.ref306","first-page":"A39","article-title":"Chromosome Breakage in 2 Siblings with Ataxia-Telangiectasia\u2014Search for Intrafamilial Similarities.","volume":"26","author":"N.H. Hatcher","year":"1974","journal-title":"American Journal of Human Genetics"},{"issue":"7","key":"pone.0264177.ref307","first-page":"519","article-title":"Clinical phenotype and genetic characteristics of ataxia-telangiectasia: four cases report.","volume":"17","author":"L. Zheng","year":"2017","journal-title":"Chinese Journal of Contemporary Neurology and Neurosurgery"},{"issue":"8","key":"pone.0264177.ref308","first-page":"2377","article-title":"Clonal Evolution of Malignant and Nonmalignant T-Cells Carrying T(1414) and T(X14) in Patients with Ataxia-Telangiectasia.","volume":"9","author":"P.D. Sherrington","year":"1994","journal-title":"Oncogene,"},{"issue":"3","key":"pone.0264177.ref309","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/S0190-9622(84)80089-4","article-title":"Common and uncommon cutaneous findings in patients with ataxia-telangiectasia.","volume":"10","author":"L.E. Cohen","year":"1984","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"5","key":"pone.0264177.ref310","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1080\/13554799908402736","article-title":"Conditioning in identical twins with ataxia-telangiectasia.","volume":"5","author":"S.H. Mostofsky","year":"1999","journal-title":"Neurocase"},{"issue":"2","key":"pone.0264177.ref311","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/0165-4608(92)90009-W","article-title":"Cytogenetic analysis in ataxia telangiectasia with malignant lymphoma.","volume":"60","author":"I. Petkovic","year":"1992","journal-title":"Cancer Genetics & Cytogenetics"},{"issue":"6","key":"pone.0264177.ref312","first-page":"A78","article-title":"Cytogenetic and Immunological Studies in Ataxia Telangiectasia.","volume":"27","author":"Alsaadi","year":"1975","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"pone.0264177.ref313","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/BF00200905","article-title":"Cytogenetic Investigations in 3 Cell-Types of a Saudi Family with Ataxia Telangiectasia.","volume":"87","author":"Waghray","year":"1991","journal-title":"Human Genetics,"},{"issue":"3","key":"pone.0264177.ref314","first-page":"P42","article-title":"Delayed diagnosis of ataxia-telangiectasia","volume":"42","author":"M.D. Cabana","year":"1997","journal-title":"Annals of Neurology"},{"issue":"6","key":"pone.0264177.ref315","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.jaad.2012.12.950","article-title":"Dermatologic manifestations of ataxia-telangiectasia syndrome","volume":"68","author":"S. Greenberger","year":"2013","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"9","key":"pone.0264177.ref316","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1136\/adc.54.9.682","article-title":"Diagnostic considerations in ataxia-telangiectasia","volume":"54","author":"J.M. Jason","year":"1979","journal-title":"Archives of Disease in Childhood"},{"issue":"4","key":"pone.0264177.ref317","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1157\/13077743","article-title":"Different clinical and laboratory evolutions in ataxia-telangiectasia syndrome: Report of four cases.","volume":"33","author":"W.C. Neves Forte","year":"2005","journal-title":"Allergologia et Immunopathologia,"},{"issue":"3","key":"pone.0264177.ref318","first-page":"193","article-title":"[Disorders of lymphocyte maturation, helper T cells and anti T cell antibody in sisters with ataxia telangiectasia","volume":"18","author":"I. Tamai","year":"1986","journal-title":"No to Hattatsu [Brain & Development]"},{"issue":"5","key":"pone.0264177.ref319","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1651-2227.1978.tb17821.x","article-title":"Disseminated Herpes simplex virus infection in ataxia-telangiectasia","volume":"67","author":"A. Ben-Zvi","year":"1978","journal-title":"Acta Paediatrica Scandinavica"},{"issue":"2","key":"pone.0264177.ref320","first-page":"249","article-title":"Epstein-Barr serology in immunodeficiencies: an attempt to correlate with immune abnormalities in Wiskott-Aldrich and Chediak-Higashi syndromes and ataxia telangiectasia.","volume":"55","author":"E. Vilmer","year":"1984","journal-title":"Clinical & Experimental Immunology,"},{"issue":"8","key":"pone.0264177.ref321","first-page":"845","article-title":"Epstein-Barr virus antibodies in patients with ataxia-telangiectasia and other immunodeficiency diseases","volume":"125","author":"J.H. Joncas","year":"1981","journal-title":"Canadian Medical Association Journal"},{"issue":"SUPPL. 1","key":"pone.0264177.ref322","article-title":"Expression of CD40, CD40L and IgM production in patients with ataxiatelangiectasia","volume":"8","author":"C.T.M. Pereira","year":"2015","journal-title":"World Allergy Organization Journal"},{"issue":"3","key":"pone.0264177.ref323","first-page":"A290","article-title":"Extreme Insulin Resistance in Ataxia Telangiectasia\u2014Defect in Affinity of Insulin Receptors","volume":"25","author":"R.S. Bar","year":"1977","journal-title":"Clinical Research"},{"issue":"6","key":"pone.0264177.ref324","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/0002-9394(66)92562-1","article-title":"The eye signs in ataxia-telangiectasia","volume":"62","author":"S.W. Hyams","year":"1966","journal-title":"American Journal of Ophthalmology"},{"issue":"187","key":"pone.0264177.ref325","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1136\/adc.36.187.344","article-title":"Familial Ataxia-Telangiectasia","volume":"36","author":"J.D. Pickup","year":"1961","journal-title":"Archives of Disease in Childhood"},{"issue":"9\u201310","key":"pone.0264177.ref326","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.clinbiochem.2007.03.013","article-title":"Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress","volume":"40","author":"P. Degan","year":"2007","journal-title":"Clinical Biochemistry"},{"issue":"2","key":"pone.0264177.ref327","first-page":"e149","article-title":"Granulomatous skin disease in ataxia-telangiectasia","volume":"178","author":"R. Browne","year":"2018","journal-title":"British Journal of Dermatology"},{"issue":"1","key":"pone.0264177.ref328","first-page":"38","article-title":"Histological and radiobiological study on adult cases with ataxia telangiectasia","volume":"34","author":"M. Serizawa","year":"1994","journal-title":"Rinsho Shinkeigaku\u2014Clinical Neurology"},{"issue":"3","key":"pone.0264177.ref329","first-page":"305","article-title":"Human anti-IgM iso-antibodies in subjects with selective IgA deficiency.","volume":"12","author":"J.V. Wells","year":"1972","journal-title":"Clinical & Experimental Immunology"},{"key":"pone.0264177.ref330","first-page":"252","article-title":"Immune status in ataxia telangiectasia","volume":"94","author":"U. Datta","year":"1991","journal-title":"Indian Journal of Medical Research"},{"issue":"5","key":"pone.0264177.ref331","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1159\/000229955","article-title":"Immunologic aspects of ataxia-telangiectasia.","volume":"32","author":"Z. Hanicki","year":"1967","journal-title":"International Archives of Allergy & Applied Immunology,"},{"key":"pone.0264177.ref332","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1056\/NEJM196501072720104","article-title":"Immunologic Deficiency in Ataxia Telangiectasia","volume":"272","author":"A.H. Eisen","year":"1965","journal-title":"New England Journal of Medicine"},{"issue":"1","key":"pone.0264177.ref333","first-page":"15","article-title":"Immunologic studies in ataxia-telangiectasia. I. Delayed hypersensitivity and serum immune globulin levels in probands and first-degree relatives.","volume":"30","author":"W.L. Epstein","year":"1966","journal-title":"International Archives of Allergy & Applied Immunology"},{"issue":"2","key":"pone.0264177.ref334","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF00466267","article-title":"Immunological Investigations in 2 Brothers with Ataxia Telangiectasia Louis-Bar","volume":"122","author":"H. Schultewissermann","year":"1976","journal-title":"European Journal of Pediatrics"},{"issue":"5","key":"pone.0264177.ref335","first-page":"518","article-title":"Immunological studies on an aberrant form of ataxia telangiectasia","volume":"131","author":"R.L. Hansen","year":"1977","journal-title":"American Journal of Diseases of Children"},{"issue":"8293","key":"pone.0264177.ref336","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/S0140-6736(82)90271-9","article-title":"Improvement of cellular immunity and IgA production in immunodeficient children after treatment with synthetic serum thymic factor (FTS).","volume":"2","author":"P. Bordigoni","year":"1982","journal-title":"Lancet"},{"issue":"2","key":"pone.0264177.ref337","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1200\/JCO.2014.56.5101","article-title":"Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies","volume":"33","author":"F. Suarez","year":"2015","journal-title":"Journal of Clinical Oncology"},{"issue":"4","key":"pone.0264177.ref338","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/mds.870090415","article-title":"Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor","volume":"9","author":"J.A. Hiel","year":"1994","journal-title":"Movement Disorders"},{"issue":"7474","key":"pone.0264177.ref339","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/S0140-6736(66)90517-4","article-title":"Leukaemia and Lymphocytes in Ataxia-Telangiectasia","volume":"2","author":"F. Hecht","year":"1966","journal-title":"Lancet"},{"issue":"5","key":"pone.0264177.ref340","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1542\/peds.44.5.672","article-title":"Long-term plasma infusions in a patient with ataxia-telangiectasia and deficient IGA and IGE","volume":"44","author":"A.J. Ammann","year":"1969","journal-title":"Pediatrics"},{"issue":"3","key":"pone.0264177.ref341","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/0002-9343(66)90080-5","article-title":"Lymphoid tissue abnormalities associated with ataxia-telangiectasia","volume":"41","author":"R.D. Peterson","year":"1966","journal-title":"American Journal of Medicine"},{"issue":"6","key":"pone.0264177.ref342","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1111\/ene.13606","article-title":"Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study","volume":"25","author":"E. Cirillo","year":"2018","journal-title":"European Journal of Neurology"},{"issue":"3","key":"pone.0264177.ref343","doi-asserted-by":"crossref","first-page":"125","DOI":"10.3109\/01658107.2015.1016579","article-title":"Neuro-ophthalmological findings in children and adolescents with chronic ataxia","volume":"39","author":"M.S. Salman","year":"2015","journal-title":"Neuro Ophthalmology"},{"issue":"3","key":"pone.0264177.ref344","first-page":"329","article-title":"Oculomotor signs in cerebellar disease shown in ataxia telangiectasia (Louis Bar) (author\u2019s transl)","volume":"173","author":"D. Schmidt","year":"1978","journal-title":"Klinische Monatsblatter fur Augenheilkunde"},{"issue":"6","key":"pone.0264177.ref345","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1136\/jnnp.29.6.489","article-title":"Pathological Findings in 3 Cases of Ataxia-Telangiectasia","volume":"29","author":"S.J. Strich","year":"1966","journal-title":"Journal of Neurology Neurosurgery and Psychiatry"},{"issue":"4","key":"pone.0264177.ref346","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s12185-009-0408-0","article-title":"Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan","volume":"90","author":"T. Morio","year":"2009","journal-title":"International Journal of Hematology"},{"issue":"3","key":"pone.0264177.ref347","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/BF02738786","article-title":"Pituitary changes in ataxia-telangiectasia syndrome: An immunocytochemical, in situ hybridization, and DNA cytometric study of three cases","volume":"8","author":"K. Kovacs","year":"1997","journal-title":"Endocrine Pathology"},{"issue":"8","key":"pone.0264177.ref348","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1093\/molehr\/8.8.785","article-title":"Pregnancy after preimplantation genetic diagnosis for Ataxia Telangiectasia","volume":"8","author":"A. Hellani","year":"2002","journal-title":"Molecular Human Reproduction"},{"issue":"SUPPL. 59","key":"pone.0264177.ref349","article-title":"Presentation and diagnostic delay in ataxia telangiectasia (A-T).","volume":"46","author":"R. Devaney","year":"2015","journal-title":"European Respiratory Journal"},{"issue":"7","key":"pone.0264177.ref350","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1001\/archneur.1980.00500560094020","article-title":"Progressive dystonia masking ataxia in ataxia-telangiectasia","volume":"37","author":"J.B. Bodensteiner","year":"1980","journal-title":"Archives of Neurology"},{"issue":"2","key":"pone.0264177.ref351","first-page":"119","article-title":"Prolonged and severe photodermatitis, an early manifestation of ataxia telangiectasia","volume":"15","author":"J.M. Hernanz-Hermosa","year":"1987","journal-title":"Medicina Cutanea Ibero-Latino-Americana"},{"issue":"3","key":"pone.0264177.ref352","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1097\/00004728-198905000-00039","article-title":"Renal lymphoma in ataxia-telangiectasia: CT contribution","volume":"13","author":"C. Levine","year":"1989","journal-title":"Journal of Computer Assisted Tomography"},{"issue":"2","key":"pone.0264177.ref353","first-page":"392","article-title":"Serum IgG subclass deficiency in ataxia-telangiectasia.","volume":"68","author":"P. Aucouturier","year":"1987","journal-title":"Clinical & Experimental Immunology"},{"issue":"1","key":"pone.0264177.ref354","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1097\/00043426-200201000-00021","article-title":"Severe lung fibrosis after chemotherapy in a child with ataxia-telangiectasia","volume":"24","author":"R.L. Chen","year":"2002","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"2","key":"pone.0264177.ref355","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s12098-008-0022-9","article-title":"Spectrum of primary immune deficiency at a tertiary care hospital","volume":"75","author":"S. Verma","year":"2008","journal-title":"Indian Journal of Pediatrics"},{"issue":"3","key":"pone.0264177.ref356","first-page":"688","article-title":"A successful pregnancy and delivery in a patient with ataxia-telangiectasia","volume":"33","author":"B. Uygungil","year":"2013","journal-title":"Journal of Clinical Immunology"},{"issue":"SUPPL. 1","key":"pone.0264177.ref357","article-title":"Transitional B cells and CD21low in patients with ataxia-telangiectasia","volume":"8","author":"D.C. Bichuetti-Silva","year":"2015","journal-title":"World Allergy Organization Journal"},{"issue":"6","key":"pone.0264177.ref358","first-page":"A101","article-title":"Unique Karyotypic Patterns in 3 Sibs with Ataxia Telangiectasia","volume":"33","author":"A.J. Cousineau","year":"1981","journal-title":"American Journal of Human Genetics"},{"issue":"Supplement 1","key":"pone.0264177.ref359","first-page":"S21","article-title":"Unique presentations of ataxia-telangiectasia in two brothers","volume":"65","author":"C. Ours","year":"2018","journal-title":"Pediatric Blood and Cancer"},{"issue":"6","key":"pone.0264177.ref360","first-page":"488","article-title":"An unusual clinical presentation: invasive Candida non-albicans infections in ataxia telangiectasia.","volume":"18","author":"F. Cipe","year":"2008","journal-title":"Journal of Investigational Allergology & Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref361","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.4049\/jimmunol.119.5.1857","article-title":"Unusual prevalence of Epstein-Barr virus early antigen (EBV-EA) antibodies in ataxia telangiectasia","volume":"119","author":"J. Joncas","year":"1977","journal-title":"Journal of Immunology"},{"issue":"2","key":"pone.0264177.ref362","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/S0090-8258(89)80045-9","article-title":"Uterine tumors in ataxia-telangiectasia","volume":"32","author":"R.A. Gatti","year":"1989","journal-title":"Gynecologic Oncology"},{"issue":"10","key":"pone.0264177.ref363","doi-asserted-by":"crossref","first-page":"e1409","DOI":"10.1002\/mgg3.1409","article-title":"Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).","volume":"8","author":"R. Asadollahi","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"pone.0264177.ref364","doi-asserted-by":"crossref","first-page":"503301","DOI":"10.1016\/j.mrgentox.2020.503301","article-title":"Analysis of chromosomal aberrations and \u03b3H2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients","volume":"861\u2013862","author":"M. Bucher","year":"2021","journal-title":"Mutat Res Genet Toxicol Environ Mutagen"},{"issue":"SUPPL 1","key":"pone.0264177.ref365","first-page":"283","article-title":"Case report: papillary thyroid carcinoma in two sisters with ataxia telangiectasia syndrome.","volume":"58","author":"A.C.A. Cau","year":"2021","journal-title":"Revista Argentina de Endocrinologia y Metabolismo"},{"issue":"1","key":"pone.0264177.ref366","doi-asserted-by":"crossref","first-page":"16184","DOI":"10.1038\/s41598-020-73219-5","article-title":"Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin","volume":"10","author":"S. Chakravorty","year":"2020","journal-title":"Sci Rep"},{"issue":"Supplement 1","key":"pone.0264177.ref367","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1016\/j.pathol.2020.01.114","article-title":"The importance of phenotypic information to guide genetic testing","volume":"52","author":"A. Ritchie","year":"2020","journal-title":"Pathology"},{"issue":"2","key":"pone.0264177.ref368","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s10048-021-00639-4","article-title":"Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia","volume":"22","author":"A.S. Shalash","year":"2021","journal-title":"Neurogenetics"},{"issue":"1","key":"pone.0264177.ref369","doi-asserted-by":"crossref","first-page":"103630","DOI":"10.1016\/j.ejmg.2019.02.003","article-title":"ATM mutation spectrum in Russian children with ataxia-telangiectasia","volume":"63","author":"E. Suspitsin","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"1","key":"pone.0264177.ref370","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/0165-4608(81)90005-4","article-title":"Ataxia telangiectasia with evolution of monosomy 14 and emergence of Hodgkin\u2019s disease","volume":"4","author":"R. Bernstein","year":"1981","journal-title":"Cancer Genetics & Cytogenetics"},{"issue":"4\u20135 6","key":"pone.0264177.ref371","first-page":"221","article-title":"Proposal of a neurosurgical treatment for ataxia telangiectasia (Mme. Louis Bar syndrome). First results obtained.","volume":"44","author":"C.M. Ramirez Corria","year":"1972","journal-title":"Revista Cubana de Pediatria"},{"key":"pone.0264177.ref372","author":"R. R. A. Young","year":"1964","journal-title":"Abnormalities of Serum Gamma-1-a Globulin and Ataxia Telangiectasia"},{"issue":"11","key":"pone.0264177.ref373","doi-asserted-by":"crossref","first-page":"2245","DOI":"10.1016\/j.bbmt.2018.07.001","article-title":"Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism","volume":"24","author":"M. Ussowicz","year":"2018","journal-title":"Biol Blood Marrow Transplant"},{"issue":"3","key":"pone.0264177.ref374","first-page":"182","article-title":"Ataxia-telangiectasia in Japan","volume":"33","author":"H. Hayakawa","year":"1984","journal-title":"Arerugi\u2014Japanese Journal of Allergology"},{"issue":"1","key":"pone.0264177.ref375","article-title":"Childhood colon cancer in a patient with ataxia telangiectasia","volume":"4","author":"K.M. Jo","year":"2016","journal-title":"Annals of Translational Medicine"},{"issue":"6\u20137","key":"pone.0264177.ref376","first-page":"634","article-title":"Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia","volume":"156","author":"C. Triki","year":"2000","journal-title":"Revue Neurologique"},{"issue":"5","key":"pone.0264177.ref377","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s10875-007-9105-z","article-title":"Primary immunodeficiency diseases in Australia and New Zealand","volume":"27","author":"P. Kirkpatrick","year":"2007","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref378","first-page":"74","article-title":"[Spectrum of primary immunodeficiencies in a tertiary hospital over a period of 10 years].","volume":"74","author":"A. Martin-Nalda","year":"2011","journal-title":"Anales de Pediatria"},{"issue":"8","key":"pone.0264177.ref379","doi-asserted-by":"crossref","first-page":"410","DOI":"10.3928\/00904481-20090723-03","article-title":"A 6-year-old girl with unsteady gait","volume":"38","author":"R. Listernick","year":"2009","journal-title":"Pediatric Annals"},{"issue":"8","key":"pone.0264177.ref380","first-page":"727","article-title":"Ataxia Telangiectasia","volume":"56","author":"E.J. Moynahan","year":"1963","journal-title":"Proceedings of the Royal Society of Medicine-London"},{"issue":"1","key":"pone.0264177.ref381","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/mdc3.12564","article-title":"Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia","volume":"5","author":"J. Necpal","year":"2018","journal-title":"Movement Disorders Clinical Practice"},{"issue":"1","key":"pone.0264177.ref382","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/j.1442-200X.1984.tb00598.x","article-title":"Ataxia telangiectasia with persistent Epstein-Barr virus infection and malignant lymphoma","volume":"26","author":"Y. Sakiyama","year":"1984","journal-title":"Acta Paediatrica Japonica"},{"issue":"1","key":"pone.0264177.ref383","first-page":"15","article-title":"Ataxia telangiectasia: Serological Presentation","volume":"16","author":"C. Gupta","year":"2012","journal-title":"Current Pediatric Research"},{"issue":"2","key":"pone.0264177.ref384","first-page":"207","article-title":"Ataxia-Telangiectasia","volume":"98","author":"R.C. Miller","year":"1968","journal-title":"Archives of Dermatology"},{"issue":"5","key":"pone.0264177.ref385","first-page":"630","article-title":"Ataxia-telangiectasia and stomach cancer","volume":"85","author":"M. Massad","year":"1990","journal-title":"American Journal of Gastroenterology"},{"issue":"2","key":"pone.0264177.ref386","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1590\/S0004-282X1971000200011","article-title":"Ataxia-telangiectasia syndrome","volume":"29","author":"A. Batista da Silva","year":"1971","journal-title":"Arquivos de Neuro-Psiquiatria"},{"issue":"5","key":"pone.0264177.ref387","first-page":"493","article-title":"Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report","volume":"9","author":"F. Ye","year":"2018","journal-title":"Mol Clin Oncol"},{"issue":"1","key":"pone.0264177.ref388","doi-asserted-by":"crossref","first-page":"80","DOI":"10.3343\/alm.2014.34.1.80","article-title":"Ataxia-telangiectasia with novel splicing mutations in the ATM gene","volume":"34","author":"H. Jeong","year":"2014","journal-title":"Annals of Laboratory Medicine"},{"issue":"3","key":"pone.0264177.ref389","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/ana.410130312","article-title":"Cerebellar cortex ultrastructure in ataxia-telangiectasia","volume":"13","author":"M.M. Paula-Barbosa","year":"1983","journal-title":"Annals of Neurology"},{"issue":"6","key":"pone.0264177.ref390","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1111\/j.1445-5994.1987.tb01266.x","article-title":"Chronic eosinophilic pneumonia in a patient with ataxia telangiectasia.","volume":"17","author":"A.S. Zagami","year":"1987","journal-title":"Australian & New Zealand Journal of Medicine"},{"key":"pone.0264177.ref391","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1477-7819-7-29","article-title":"Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature","volume":"7","author":"I.A. Otabor","year":"2009","journal-title":"World Journal of Surgical Oncology"},{"key":"pone.0264177.ref392","first-page":"286","article-title":"Louis Bar syndrome","volume":"51","author":"A. Rohatgi","year":"2003","journal-title":"Journal of the Association of Physicians of India"},{"issue":"5","key":"pone.0264177.ref393","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1002\/pbc.21016","article-title":"Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia.","volume":"50","author":"B. Brasseur","year":"2008","journal-title":"Pediatric Blood & Cancer"},{"key":"pone.0264177.ref394","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1378\/chest.47.5.473","article-title":"A Study of the Bronchial and Vascular Structures of a Lung: From a Case of Ataxia-Telangiectasia","volume":"47","author":"K.K. Pump","year":"1965","journal-title":"Diseases of the Chest"},{"issue":"4","key":"pone.0264177.ref395","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1007\/s00381-019-04399-3","article-title":"Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report","volume":"36","author":"L. Zhang","year":"2020","journal-title":"Childs Nerv Syst"},{"issue":"4","key":"pone.0264177.ref396","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/mds.25236","article-title":"Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia","volume":"28","author":"P.F. Worth","year":"2013","journal-title":"Movement Disorders"},{"issue":"11","key":"pone.0264177.ref397","doi-asserted-by":"crossref","first-page":"2387","DOI":"10.12998\/wjcc.v8.i11.2387","article-title":"Ataxia-telangiectasia complicated with Hodgkin\u2019s lymphoma: A case report","volume":"8","author":"X.L. Li","year":"2020","journal-title":"World J Clin Cases"},{"issue":"Supplement 1","key":"pone.0264177.ref398","first-page":"S14","article-title":"Adult ataxia-telangiectasia: A case report and description of genetic and functional findings","volume":"7","author":"J.P. Maturo","year":"2020","journal-title":"Movement Disorders Clinical Practice"},{"issue":"2","key":"pone.0264177.ref399","first-page":"91","article-title":"A 30-Year-Old Man with Ataxia-Telangiectasia and Dysphagia\u2014Malignant-Lymphoma, Diffuse, Large-Cell, B-Immunoblastic Type, Involving Right Tonsil and Lungs\u2014Ataxia-Telangiectasia.","volume":"316","author":"F.S. Rosen","year":"1987","journal-title":"New England Journal of Medicine"},{"key":"pone.0264177.ref400","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1001\/archpedi.1965.02090030057008","article-title":"Ataxia-Telangiectasia. Further Observations and Report of Eight Cases","volume":"110","author":"G. Karpati","year":"1965","journal-title":"American Journal of Diseases of Children"},{"issue":"2","key":"pone.0264177.ref401","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1111\/j.1440-1827.1969.tb00705.x","article-title":"An autopsy case of ataxia-telangiectasia","volume":"19","author":"Y. Itatsu","year":"1969","journal-title":"Acta Pathologica Japonica"},{"issue":"11","key":"pone.0264177.ref402","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1212\/WNL.28.11.1099","article-title":"Eye movements in ataxia-telangiectasia","volume":"28","author":"R.W. Baloh","year":"1978","journal-title":"Neurology"},{"issue":"12","key":"pone.0264177.ref403","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1212\/WNL.18.12.1180","article-title":"Louis-Bar\u2019s syndrome (ataxia-telangiectasia). Anatomic considerations with emphasis on neuropathologic observations","volume":"18","author":"G.B. Solitare","year":"1968","journal-title":"Neurology"},{"issue":"5","key":"pone.0264177.ref404","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1097\/00043426-200009000-00017","article-title":"Lymphoid malignancy as a presenting sign of ataxia-telangiectasia","volume":"22","author":"D.M. Loeb","year":"2000","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"2","key":"pone.0264177.ref405","doi-asserted-by":"crossref","first-page":"e43","DOI":"10.1016\/j.jpag.2012.09.003","article-title":"Non-hodgkin B-cell lymphoma of the ovary in a child with Ataxia-telangiectasia.","volume":"26","author":"C.S. Danby","year":"2013","journal-title":"Journal of Pediatric & Adolescent Gynecology"},{"issue":"1","key":"pone.0264177.ref406","first-page":"823","article-title":"Transplantation of neonate thymus-sternum complex in ataxia-teleangiectasia","volume":"5","author":"Y. Lopukhin","year":"1973","journal-title":"Transplantation Proceedings"},{"issue":"3","key":"pone.0264177.ref407","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0387-7604(81)80051-4","article-title":"Ataxia-telangiectasia (A-T). Contribution with eighteen personal cases.","volume":"3","author":"S.I. Pascual-Pascual","year":"1981","journal-title":"Brain & Development"},{"issue":"1","key":"pone.0264177.ref408","article-title":"16 Year old male with cough and dysphagia","volume":"181","author":"D.M. Goetz","year":"2010","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"8","key":"pone.0264177.ref409","first-page":"1483","article-title":"Abnormal white matter signal in ataxia telangiectasia.","volume":"21","author":"J.J. Ciemins","year":"2000","journal-title":"Ajnr: American Journal of Neuroradiology"},{"issue":"10","key":"pone.0264177.ref410","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1038\/sj.leu.2402210","article-title":"Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature","volume":"15","author":"N. Viniou","year":"2001","journal-title":"Leukemia"},{"issue":"6","key":"pone.0264177.ref411","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1590\/S0004-282X2010000600022","article-title":"Alpha-fetoprotein as a biomarker for recessive ataxias","volume":"68","author":"P. Braga-Neto","year":"2010","journal-title":"Arquivos de Neuro Psiquiatria"},{"issue":"7","key":"pone.0264177.ref412","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1590\/0004-282X20150067","article-title":"Ataxia telangiectasia","volume":"73","author":"L. Sauma","year":"2015","journal-title":"Arquivos de Neuro-Psiquiatria"},{"issue":"2","key":"pone.0264177.ref413","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2016-1279","article-title":"Ataxia Telangiectasia and Juvenile Idiopathic Arthritis","volume":"139","author":"A.M. Pasini","year":"2017","journal-title":"Pediatrics"},{"issue":"8","key":"pone.0264177.ref414","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1007\/s10875-016-0334-x","article-title":"Ataxia telangiectasia associated with nodular regenerative hyperplasia","volume":"36","author":"K.L. Milligan","year":"2016","journal-title":"Journal of Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref415","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.pediatrneurol.2013.11.011","article-title":"Ataxia telangiectasia in a three-year-old-girl","volume":"50","author":"K.A. Hosking","year":"2014","journal-title":"Pediatric Neurology"},{"issue":"3","key":"pone.0264177.ref416","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1007\/s12098-015-1852-x","article-title":"Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome","volume":"83","author":"A. Rawat","year":"2016","journal-title":"Indian Journal of Pediatrics"},{"issue":"Supplement 4","key":"pone.0264177.ref417","first-page":"73","article-title":"Ataxia telangiectasia masquerading as partially l-dopa responsive dystonia","volume":"59","author":"R.V.V. Spaull","year":"2017","journal-title":"Developmental Medicine and Child Neurology"},{"issue":"2","key":"pone.0264177.ref418","doi-asserted-by":"crossref","first-page":"AB222","DOI":"10.1016\/j.jaci.2015.12.858","article-title":"Ataxia telangiectasia presenting with absent IgG, IgA, and elevated IgM","volume":"137","author":"M. Korah-Sedgwick","year":"2016","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"Supplement 1","key":"pone.0264177.ref419","first-page":"S24","article-title":"Ataxia telangiectasia presenting with severe neutropenia and invasive actinomyces infection","volume":"65","author":"S. Snyder","year":"2018","journal-title":"Pediatric Blood and Cancer"},{"issue":"6","key":"pone.0264177.ref420","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1399-0004.1996.tb03803.x","article-title":"Ataxia telangiectasia syndrome with B cell lymphoma","volume":"49","author":"H. Kaneko","year":"1996","journal-title":"Clinical Genetics"},{"issue":"665","key":"pone.0264177.ref421","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1259\/0007-1285-56-665-343","article-title":"Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses","volume":"56","author":"R. Abadir","year":"1983","journal-title":"British Journal of Radiology"},{"issue":"6","key":"pone.0264177.ref422","first-page":"546","article-title":"Ataxia telangiectasia with hepatocellular carcinoma","volume":"46","author":"M.M. Patil","year":"2009","journal-title":"Indian Pediatrics"},{"issue":"4","key":"pone.0264177.ref423","first-page":"531","article-title":"Ataxia telangiectasia with malignant melanoma. Pediatric Blood &","volume":"49","author":"M. Manglani","year":"2007","journal-title":"Cancer"},{"issue":"1","key":"pone.0264177.ref424","first-page":"97","article-title":"Ataxia telangiectasia: the consequences of a delayed diagnosis. Radiotherapy &","volume":"99","author":"C.M. Mandigers","year":"2011","journal-title":"Oncology"},{"key":"pone.0264177.ref425","article-title":"Ataxia telangiectasia-diagnostic and management challenge in a developing country","volume":"191","author":"A.O. Alohan","year":"2015","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"1","key":"pone.0264177.ref426","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/S0190-9622(09)80245-4","article-title":"Ataxia-telangiectasia (Louis-Bar syndrome) associated with ulcerating necrobiosis lipoidica","volume":"31","author":"A. Gotz","year":"1994","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"Supplement 1","key":"pone.0264177.ref427","first-page":"S128","article-title":"Ataxia-telangiectasia associated granulomas in a girl. a case report","volume":"34","author":"H. Cantu-Maltos","year":"2017","journal-title":"Pediatric Dermatology"},{"issue":"4","key":"pone.0264177.ref428","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/j.1525-1470.1986.tb00537.x","article-title":"Ataxia-telangiectasia associated with sarcoidosis","volume":"3","author":"R.M. Fleck","year":"1986","journal-title":"Pediatric Dermatology"},{"issue":"3","key":"pone.0264177.ref429","first-page":"295","article-title":"Ataxia-Telangiectasia diagnosed after adenoidectomy: A case report","volume":"116","author":"L. Moreno","year":"2005","journal-title":"Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref430","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0022-3476(05)81795-0","article-title":"Ataxia-telangiectasia in a child with vaccine-associated paralytic poliomyelitis","volume":"121","author":"K.R. Pohl","year":"1992","journal-title":"Journal of Pediatrics"},{"issue":"6","key":"pone.0264177.ref431","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1002\/1097-0142(19840915)54:6<1113::AID-CNCR2820540632>3.0.CO;2-C","article-title":"Ataxia-telangiectasia with dysgerminoma of right ovary, papillary carcinoma of thyroid, and adenocarcinoma of pancreas","volume":"54","author":"T. Narita","year":"1984","journal-title":"Cancer"},{"issue":"5","key":"pone.0264177.ref432","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1002\/1097-0142(197511)36:5<1838::AID-CNCR2820360540>3.0.CO;2-K","article-title":"Ataxia-telangiectasia with ovarian gonadoblastoma and contralateral dysgerminoma","volume":"36","author":"C.I. Goldsmith","year":"1975","journal-title":"Cancer"},{"issue":"3","key":"pone.0264177.ref433","first-page":"217","article-title":"Autoimmune hemolytic anemia in a patient with probable ataxia telangiectasia: a case report.","volume":"11","author":"S. Alyasin","year":"2014","journal-title":"Iranian Journal Of Immunology: IJI"},{"issue":"3","key":"pone.0264177.ref434","first-page":"361","article-title":"An autopsy case of ataxia telangiectasia","volume":"32","author":"S. Yamashita","year":"2012","journal-title":"Neuropathology"},{"issue":"5","key":"pone.0264177.ref435","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1080\/08880010802106614","article-title":"B-cell acute lymphoblastic leukemia in a child with ataxia telangiectasia.","volume":"25","author":"L.M. Sharma","year":"2008","journal-title":"Pediatric Hematology & Oncology"},{"issue":"4","key":"pone.0264177.ref436","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/pbc.20548","article-title":"B-cell lymphoma in a girl with ataxia teleangiectasia (A-T) treated with rituximab monotherapy.","volume":"46","author":"G. Kropshofer","year":"2006","journal-title":"Pediatric Blood & Cancer"},{"issue":"4","key":"pone.0264177.ref437","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1097\/MPH.0000000000001471","article-title":"Bladder Artery Embolization for Massive Hematuria Treatment in a Patient With Ataxia-Telangiectasia Acute Lymphoblastic Leukemia","volume":"42","author":"A. Bahadir","year":"2020","journal-title":"J Pediatr Hematol Oncol"},{"issue":"5","key":"pone.0264177.ref438","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1111\/j.1651-2227.2008.00736.x","article-title":"Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation","volume":"97","author":"J.M. Cohen","year":"2008","journal-title":"Acta Paediatrica"},{"issue":"3","key":"pone.0264177.ref439","first-page":"276","article-title":"A Case of Ataxia Telangiectasia with Immunodeficiency Due to a Rare Vriant","volume":"36","author":"L. Rampur","year":"2016","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref440","first-page":"32","article-title":"A case of ataxia telangiectasia with unbalanced glucose 6-phosphate dehydrogenase mosaicism in the granulocytic\/monocytic lineages","volume":"40","author":"A.M. Ferraris","year":"1987","journal-title":"American Journal of Human Genetics"},{"key":"pone.0264177.ref441","article-title":"A case of clandestine cancer: Increasing awareness of non-hematologic cancers in patients with ataxiatelangiectasia","author":"B.N Bell"},{"issue":"SUPPL. 2","key":"pone.0264177.ref442","first-page":"149","article-title":"Case report: Ataxia-telangiectasia: Cerebral abnormalities in: A case of long survival","volume":"23","author":"E. Zupanic","year":"2016","journal-title":"European Journal of Neurology"},{"issue":"2","key":"pone.0264177.ref443","doi-asserted-by":"crossref","DOI":"10.1055\/s-0033-1337697","article-title":"Case report: Oculomotor apraxia in ataxia telangiectasia","volume":"44","author":"T. Langhagen","year":"2013","journal-title":"Neuropediatrics"},{"issue":"10","key":"pone.0264177.ref444","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1212\/WNL.0000000000003066","article-title":"Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia","volume":"87","author":"H.S. Liu","journal-title":"Neurology"},{"issue":"14","key":"pone.0264177.ref445","doi-asserted-by":"crossref","first-page":"e213","DOI":"10.1200\/JCO.2009.25.5067","article-title":"Child with ataxia telangiectasia developing acute myeloid leukemia","volume":"28","author":"C.H. Lin","year":"2010","journal-title":"Journal of Clinical Oncology"},{"key":"pone.0264177.ref446","article-title":"A Child with Ataxia Telangiectasia with Persistent Hematuria due to Bladder Wall Telangiectasia","author":"I.C., F Kazaz","year":"2018","journal-title":"JOURNAL OF ACADEMIC RESEARCH IN MEDICINE"},{"issue":"9","key":"pone.0264177.ref447","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1001\/archderm.134.9.1145","article-title":"Chronic plaques in a patient with ataxia telangiectasia. Cutaneous granulomatous lesions in a patient with AT","volume":"134","author":"G.J. Murakawa","year":"1998","journal-title":"Archives of Dermatology"},{"issue":"2","key":"pone.0264177.ref448","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1182\/blood.V68.2.577.577","article-title":"Chronic T cell leukemia with unusual cellular characteristics in ataxia telangiectasia","volume":"68","author":"U. Duhrsen","year":"1986","journal-title":"Blood"},{"issue":"3","key":"pone.0264177.ref449","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1007\/s00415-019-09641-1","article-title":"Classic ataxia-telangiectasia: the phenotype of long-term survivors","volume":"267","author":"N.J.H. van Os","year":"2020","journal-title":"J Neurol"},{"issue":"3","key":"pone.0264177.ref450","first-page":"251","article-title":"A COMPLEX CASE OF HYPER IgM IMMUNODEFICIENCY AND LATE PRESENTATION OF ATAXIA TELANGIECTASIA WITHOUT NEUROLOGIC SIGNS","volume":"36","author":"A. Doshi","year":"2016","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref451","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1111\/j.1365-2133.2005.06619.x","article-title":"Cutaneous granulomas associated with primary immunodeficiency disorders","volume":"153","author":"A. Mitra","year":"2005","journal-title":"British Journal of Dermatology"},{"issue":"8\u20139","key":"pone.0264177.ref452","first-page":"608","article-title":"Cutaneous granulomatous lesions disclosing ataxia-telangiectasia","volume":"126","author":"A. Corbisier","year":"1999","journal-title":"Annales de Dermatologie et de Venereologie"},{"issue":"6","key":"pone.0264177.ref453","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/j.brs.2016.07.009","article-title":"Deep Brain Stimulation in Rare Inherited Dystonias.","volume":"9","author":"I. Beaulieu-Boire","year":"2016","journal-title":"Brain Stimulation"},{"issue":"11\u201312","key":"pone.0264177.ref454","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1016\/S0145-2126(96)00033-1","article-title":"Diffuse large cell lymphoma presenting as inflammatory bowel disease in an adolescent with ataxia telangiectasia","volume":"20","author":"G. Kapoor","year":"1996","journal-title":"Leukemia Research"},{"issue":"7","key":"pone.0264177.ref455","first-page":"455","article-title":"Efficacy of Rituximab in Refractory Cold Agglutinin Hemolytic Anemia in a Patient with Ataxia-Telangiectasia.","volume":"17","author":"U.N. Abdulhag","year":"2015","journal-title":"Israel Medical Association Journal: Imaj"},{"issue":"1","key":"pone.0264177.ref456","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1053\/hupa.2002.30214","article-title":"Epstein-Barr virus-associated smooth muscle tumors in ataxia-telangiectasia: a case report and review","volume":"33","author":"C. Reyes","year":"2002","journal-title":"Human Pathology"},{"issue":"7","key":"pone.0264177.ref457","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1111\/pai.12766","article-title":"Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy.","volume":"28","author":"R. Kruger","year":"2017","journal-title":"Pediatric Allergy & Immunology"},{"issue":"1","key":"pone.0264177.ref458","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1002\/(SICI)1096-911X(200001)34:1<62::AID-MPO14>3.0.CO;2-E","article-title":"Fatal outcome in two girls with hodgkin disease complicating ataxia-telangiectasia (Louis-Bar syndrome) despite favorable response to modified-dose chemotherapy.","volume":"34","author":"H. Irsfeld","year":"2000","journal-title":"Medical & Pediatric Oncology"},{"issue":"4","key":"pone.0264177.ref459","doi-asserted-by":"crossref","first-page":"235","DOI":"10.2177\/jsci.6.235","article-title":"Follow-up studies of immunological disorders in patients with ataxia-telangiectasia I. Clinical and pathological observations of two cases","volume":"6","author":"M. Matsuoka","year":"1983","journal-title":"Japanese Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref460","first-page":"236","article-title":"Functional diagnosis of ataxia telangiectasia in a female infant identified via newborn screening for SCID (NBS SCID).","volume":"37","author":"S. Barmettler","year":"2017","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref461","doi-asserted-by":"crossref","DOI":"10.1055\/s-0036-1583675","article-title":"Gait disturbances and unspecific white matter hyperintensity in T2-weighted imaging as the first manifestation of an ataxia telangiectasia","volume":"47","author":"H. Kolbel","year":"2016","journal-title":"Neuropediatrics"},{"issue":"6","key":"pone.0264177.ref462","first-page":"464","article-title":"Germ cell ovarian tumor in an adolescent with ataxia-telangiectasia","volume":"36","author":"E.A. Galvez-Cuitiva","year":"2015","journal-title":"Acta Pediatrica De Mexico"},{"issue":"1","key":"pone.0264177.ref463","first-page":"S25","article-title":"Hepatic disease in ataxia-telangiectasia, diagnosed in institutonacional de pediatria in Mexico City","volume":"37","author":"R. Laurel","year":"2017","journal-title":"Journal of Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref464","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/S0022-3476(99)70301-X","article-title":"Hepatic veno-occlusive disease in ataxia-telangiectasia","volume":"134","author":"N. Srisirirojanakorn","year":"1999","journal-title":"Journal of Pediatrics"},{"key":"pone.0264177.ref465","article-title":"Hepatosplenic alphabeta T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia","author":"M.F. Jacobs","year":"2019","journal-title":"J Pediatr Hematol Oncol"},{"issue":"2","key":"pone.0264177.ref466","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3109\/08916930008994084","article-title":"Is there an association between autoimmune hemolytic anemia and ataxia-telangiectasia?","volume":"32","author":"N. Kutukculer","year":"2000","journal-title":"Autoimmunity"},{"issue":"SUPPL. 3","key":"pone.0264177.ref467","first-page":"S108","article-title":"Late diagnosis in a patient with ataxia-telangiectasia and review of literature","volume":"33","author":"K.P. Pedroza-Flores","year":"2013","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref468","first-page":"A105","article-title":"Late presentation of autoimmune hepatitis as end-stage liver disease in a diagnosed case of celiac disease with ataxia telangiectasia","volume":"35","author":"S. Agarwal","year":"2016","journal-title":"Indian Journal of Gastroenterology"},{"issue":"9","key":"pone.0264177.ref469","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1136\/adc.63.9.1079","article-title":"Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia","volume":"63","author":"J.A. Eyre","year":"1988","journal-title":"Archives of Disease in Childhood"},{"issue":"10","key":"pone.0264177.ref470","doi-asserted-by":"crossref","first-page":"O656","DOI":"10.1111\/1469-0691.12573","article-title":"Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency","volume":"20","author":"C. Bodemer","year":"2014","journal-title":"Clinical Microbiology and Infection"},{"issue":"5","key":"pone.0264177.ref471","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1038\/bmt.2012.207","article-title":"Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL","volume":"48","author":"M. Ussowicz","year":"2013","journal-title":"Bone Marrow Transplantation,"},{"issue":"4","key":"pone.0264177.ref472","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1093\/brain\/87.4.581","article-title":"Madame louis-bar\u2019s syndrome; a case record, with comments upon the name, classification and significance of this disorder","volume":"87","author":"S.J.H. Miller","year":"1964","journal-title":"Brain"},{"issue":"1","key":"pone.0264177.ref473","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1002\/ppul.22535","article-title":"Malignant pleural mesothelioma in a child with ataxia-telangiectasia","volume":"48","author":"C. Rosas-Salazar","year":"2013","journal-title":"Pediatric Pulmonology"},{"issue":"1","key":"pone.0264177.ref474","doi-asserted-by":"crossref","first-page":"63","DOI":"10.3343\/alm.2018.38.1.63","article-title":"Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8.","volume":"38","author":"M.T. De Souza","year":"2018","journal-title":"Annals of Laboratory Medicine"},{"issue":"4","key":"pone.0264177.ref475","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s100249900046","article-title":"Monoclonal gammopathy of the immunoglobulin A class in a two-year-old girl with ataxia telangiectasia.","volume":"1","author":"P.S. McDonald","year":"1998","journal-title":"Pediatric & Developmental Pathology"},{"issue":"3","key":"pone.0264177.ref476","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.braindev.2014.06.001","article-title":"Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.","volume":"37","author":"T. Nakayama","year":"2015","journal-title":"Brain & Development"},{"issue":"4","key":"pone.0264177.ref477","doi-asserted-by":"crossref","first-page":"375","DOI":"10.4103\/0019-5154.84721","article-title":"Neurocutaneous syndrome: A prospective study","volume":"56","author":"R. Purkait","year":"2011","journal-title":"Indian Journal of Dermatology"},{"key":"pone.0264177.ref478","article-title":"New ATM variants and a rare association of juvenile idiopathic arthritis and ataxia-telangiectasia: Coincidence or relationship?","author":"A.T. Kifer N","year":"2019","journal-title":"Pediatric Rheumatology"},{"issue":"5","key":"pone.0264177.ref479","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/jhg.2017.6","article-title":"New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation","volume":"62","author":"J. Roohi","year":"2017","journal-title":"Journal of Human Genetics"},{"issue":"2","key":"pone.0264177.ref480","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1016\/j.jaci.2014.12.975","article-title":"Newborn screening for severe combined immunodeficiency (SCID) leads to early identification of ataxia-telangiectasia (AT) complicated by neutropenia: A case report","volume":"135","author":"T. Shankar","year":"2015","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref481","doi-asserted-by":"crossref","first-page":"AB105","DOI":"10.1016\/j.jaci.2016.12.340","article-title":"Ataxia telangiectasia presenting with hypogammaglobulinemia and high igm levels, cutaneous granulomas, and expansion of CD21(LO) T-bet(+) b cells","volume":"139","author":"H.B. Minto","year":"2017","journal-title":"Journal of Allergy and Clinical Immunology"},{"key":"pone.0264177.ref482","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.jns.2016.10.014","article-title":"Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders","volume":"371","author":"M. Piane","year":"2016","journal-title":"Journal of the Neurological Sciences"},{"key":"pone.0264177.ref483","first-page":"6A","article-title":"Ophthalmic pathology of ataxia-telangiectasia: Description of the first case","volume":"86","author":"M. McLaughlin","year":"2006","journal-title":"Laboratory Investigation"},{"issue":"1","key":"pone.0264177.ref484","first-page":"A17","article-title":"Partial immune system reconstitution ina patient with ataxia-telangiectasia.","volume":"98","author":"P.H. Win","year":"2007","journal-title":"Annals of Allergy Asthma & Immunology"},{"issue":"9","key":"pone.0264177.ref485","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.3109\/10428194.2011.577256","article-title":"Patient with ataxia telangiectasia who developed acute myeloid leukemia.","volume":"52","author":"A. Brioli","year":"2011","journal-title":"Leukemia & Lymphoma"},{"key":"pone.0264177.ref486","article-title":"PREVIOUSLY HEALTHY 15-MONTH OLD FEMALE WITH RAPIDLY PROGRESSIVE ATAXIA AND MILESTONE REGRESSION","author":"P.K. Myers G","year":"2018","journal-title":"Annals of Allergy, Asthma and Immunology"},{"issue":"4","key":"pone.0264177.ref487","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s10875-005-4124-0","article-title":"Primary immune deficiencies presenting in adults: seven years of experience from Iran","volume":"25","author":"D. Mansouri","year":"2005","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref488","first-page":"17","article-title":"Progressive gait instability in a young girl; what will happen at the end?","volume":"17","author":"O.S. Amin","year":"2012","journal-title":"BMJ Case Reports"},{"issue":"5","key":"pone.0264177.ref489","first-page":"557","article-title":"Radiation reaction in ataxia telangiectasia","volume":"116","author":"J.L. Morgan","year":"1968","journal-title":"American Journal of Diseases of Children"},{"issue":"6","key":"pone.0264177.ref490","first-page":"II87","article-title":"Radiation Therapy and Adjuvant Chemotherapy in a Patient with a High Grade Glioma and Underlying Ataxia Telangiectasia","volume":"12","author":"M.D. DeWire","year":"2010","journal-title":"Neuro-Oncology"},{"key":"pone.0264177.ref491","article-title":"A rare case of marginal zone lymphoma in a 15-year old ataxia telangiectasia patient with massive bone marrow involvement and a challenging nodal diagnosis","author":"F.A. Hilmi","year":"2019","journal-title":"Human Pathology: Case Reports"},{"issue":"4","key":"pone.0264177.ref492","doi-asserted-by":"crossref","first-page":"327","DOI":"10.4103\/ijn.IJN_147_17","article-title":"Rare Cause of Bright Red Gross Hematuria in a Child.","volume":"28","author":"G. Kumar","year":"2018","journal-title":"Indian J Nephrol"},{"issue":"2","key":"pone.0264177.ref493","first-page":"321","article-title":"Spontaneous pneumothorax in ataxia telangectasia","volume":"140","author":"S. Chakravarthi","year":"2014","journal-title":"Indian Journal of Medical Research"},{"issue":"1","key":"pone.0264177.ref494","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.cancergencyto.2005.12.013","article-title":"A subtle t(3;8) results in plausible juxtaposition of MYC and BCL6 in a child with Burkitt lymphoma\/leukemia and ataxia-telangiectasia.","volume":"168","author":"J.T. Sandlund","year":"2006","journal-title":"Cancer Genetics & Cytogenetics,"},{"issue":"6","key":"pone.0264177.ref495","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/ejh.12186","article-title":"Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia","volume":"91","author":"T. Onoda","year":"2013","journal-title":"European Journal of Haematology"},{"issue":"2","key":"pone.0264177.ref496","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1097\/MPH.0000000000000151","article-title":"T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy","volume":"37","author":"D.S. Hersby","year":"2015","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"SUPPL. 3","key":"pone.0264177.ref497","first-page":"S106","article-title":"Telangiectasia ataxia new functional defect","volume":"33","author":"M.C. Ortega\u2014Lopez","year":"2013","journal-title":"Journal of Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref498","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ejmg.2017.12.012","article-title":"Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms","volume":"61","author":"M.H.D. Schoenaker","year":"2018","journal-title":"European Journal of Medical Genetics"},{"issue":"10","key":"pone.0264177.ref499","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1111\/j.1365-4632.2008.03745.x","article-title":"Uncommon skin lesion in a patient with ataxia-telangiectasia","volume":"47","author":"C. Ivonye","year":"2008","journal-title":"International Journal of Dermatology"},{"key":"pone.0264177.ref500","article-title":"An unexpected malignancy in children with ataxia telangiectasis: Intracerebellar hemangiopericytoma","author":"K.C.I.Y.E.A.V.E.O.D. Metin A","year":"2019","journal-title":"Allergy"},{"issue":"4","key":"pone.0264177.ref501","doi-asserted-by":"crossref","first-page":"442","DOI":"10.24953\/turkjped.2016.04.018","article-title":"An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia","volume":"58","author":"E. Ulusoy","year":"2016","journal-title":"Turkish Journal of Pediatrics"},{"issue":"6","key":"pone.0264177.ref502","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1007\/s00467-007-0710-0","article-title":"Vesical varices and telangiectasias in a patient with ataxia telangiectasia","volume":"23","author":"K. Suzuki","year":"2008","journal-title":"Pediatric Nephrology"},{"issue":"10","key":"pone.0264177.ref503","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1007\/s00415-013-7087-8","article-title":"Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia","volume":"260","author":"M. Synofzik","journal-title":"Journal of Neurology"},{"key":"pone.0264177.ref504","article-title":"Whole exome sequencing identifies a novel ATM mutation resulting ataxia-teleangiectasia","author":"F.I. Kozina A","year":"2019","journal-title":"European Journal of Human Genetics"},{"issue":"967","key":"pone.0264177.ref505","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1136\/pgmj.2005.040774","article-title":"Unsteady gait","volume":"82","author":"R Nandhagopal","year":"2006","journal-title":"Postgrad Med J"},{"issue":"5","key":"pone.0264177.ref506","doi-asserted-by":"crossref","first-page":"S82","DOI":"10.1016\/j.anai.2020.08.270","article-title":"Early Diagnosis of Ataxia Telangiectasia Identified through Low T-Cell Receptor Excision Circles","volume":"125","author":"A. Cosper","year":"2020","journal-title":"Annals of Allergy, Asthma and Immunology"},{"issue":"SUPPL 2","key":"pone.0264177.ref507","first-page":"31","article-title":"Central Precocious Puberty in a Boy with down Syndrome and Ataxia Telangiectasia: A Rare Association","volume":"93","author":"M.E. Carles","year":"2021","journal-title":"Hormone Research in Paediatrics"},{"issue":"9","key":"pone.0264177.ref508","doi-asserted-by":"crossref","first-page":"e28354","DOI":"10.1002\/pbc.28354","article-title":"Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.","volume":"67","author":"M.A. Goldgraben","year":"2020","journal-title":"Pediatr Blood Cancer"},{"issue":"10","key":"pone.0264177.ref509","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1002\/mds.25126","article-title":"A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia","volume":"27","author":"R. Zannolli","year":"2012","journal-title":"Movement Disorders"},{"issue":"2","key":"pone.0264177.ref510","doi-asserted-by":"crossref","first-page":"S164","DOI":"10.1016\/j.jaci.2007.12.602","article-title":"Ataxia-telangiectasia: Clinical, laboratorial and mutational analysis of patients from a reference center for primary immunodeficiency","volume":"121","author":"C.M.A. Jacob","year":"2008","journal-title":"Journal of Allergy and Clinical Immunology"},{"key":"pone.0264177.ref511","article-title":"Ataxia-Telangiectasia: Epidemiological Survey in Latin America","author":"E.L. J Dantas","year":"2018","journal-title":"Journal of Allergy and Clinical Immunology"},{"key":"pone.0264177.ref512","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-9-5","article-title":"Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial","volume":"9","author":"L. Chessa","year":"2014","journal-title":"Orphanet Journal Of Rare Diseases"},{"issue":"7","key":"pone.0264177.ref513","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1111\/j.1651-2227.2007.00338.x","article-title":"Lung disease in ataxia-telangiectasia","volume":"96","author":"L. Bott","year":"2007","journal-title":"Acta Paediatrica"},{"key":"pone.0264177.ref514","article-title":"Registry of clinical data and laboratory findings in 80 patients with primary immunodeficiencies in mofid children hospital","author":"A.Z. Mirzaee","year":"2018","journal-title":"Journal of Comprehensive Pediatrics"},{"issue":"1","key":"pone.0264177.ref515","first-page":"S142","article-title":", Ataxia-telangiectasia (AT) clinical and laboratorial evaluation of 11 patients.","volume":"103","author":"A.G. Almeida","year":"1999","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"Supplement 1","key":"pone.0264177.ref516","doi-asserted-by":"crossref","first-page":"e214","DOI":"10.1016\/j.ejpn.2017.04.1117","article-title":"Unspecific white matter hyperintensity in T2-weighted imaging and dystonia as the first manifestations of ataxia telangiectasia","volume":"21","author":"H. Kolbel","year":"2017","journal-title":"European Journal of Paediatric Neurology"},{"key":"pone.0264177.ref517","article-title":"Ataxia Telangiectasia with Chronic Skin Granulomas Preventable with SCID Newborn Screening?","author":"S.F., D Seghezzo","year":"2019"},{"key":"pone.0264177.ref518","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1136\/adc.37.196.652","article-title":"Ataxia-telangiectasia presenting with craniostenosis","volume":"37","author":"A. Robinson","year":"1962","journal-title":"Archives of Disease in Childhood"},{"issue":"6","key":"pone.0264177.ref519","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.ejpn.2015.07.003","article-title":"Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment","volume":"19","author":"M.E. van Egmond","year":"2015","journal-title":"European Journal of Paediatric Neurology"},{"key":"pone.0264177.ref520","article-title":"Multiple caf\u00e9-au-lait macules and movement disorder: Think beyond neurofibromatosis","author":"P. Madaan","year":"2019","journal-title":"Archives of Diseases in Childhood"},{"issue":"1","key":"pone.0264177.ref521","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/archdischild-2019-317497","article-title":"Multiple caf\u00e9-au-lait macules and movement disorder: think beyond neurofibromatosis","volume":"106","author":"P. Madaan","year":"2021","journal-title":"Arch Dis Child"},{"issue":"4","key":"pone.0264177.ref522","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1136\/archdischild-2016-310477","article-title":"Ataxia telangiectasia: presentation and diagnostic delay","volume":"102","author":"R. Devaney","year":"2017","journal-title":"Archives of Disease in Childhood"},{"issue":"SUPPL. 1","key":"pone.0264177.ref523","first-page":"S241","article-title":"Ataxia telangiectasia-report of six cases","volume":"32","author":"D. Moreira","year":"2012","journal-title":"Journal of Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref524","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1542\/peds.37.6.924","article-title":"Artenste.Ms, Buescher, E. L., Ataxia-Telangiectasia\u2014Immunologic and Virologic Studies of Serum and Respiratory Secretions","volume":"37","author":"J.A. Bellanti","year":"1966","journal-title":"Pediatrics"},{"key":"pone.0264177.ref525","first-page":"471","article-title":"Ataxia-telangiectasia\u2014review of five cases","volume":"65","author":"R. Silva","year":"2010","journal-title":"Allergy"},{"issue":"6","key":"pone.0264177.ref526","doi-asserted-by":"crossref","first-page":"101","DOI":"10.17116\/jnevro2019119061101","article-title":"Ataxia-telangiectasia with rare phenotype and unusual pedigree","volume":"119","author":"G.E. Rudenskaya","year":"2019","journal-title":"Zh Nevrol Psikhiatr Im S S Korsakova"},{"issue":"1","key":"pone.0264177.ref527","first-page":"65","article-title":"Ataxia-telangiectasia: somatosensory, brainstem auditory and motor evoked potentials in six patients. Developmental Medicine &","volume":"38","author":"C. Scarpini","year":"1996","journal-title":"Child Neurology"},{"key":"pone.0264177.ref528","article-title":"Clinical diagnosis and genetic counseling of atypical ataxia\u00e2\u20ac\u2018telangiectasia in a Chinese family.","author":"J Cao"},{"issue":"2","key":"pone.0264177.ref529","first-page":"83","article-title":"Demographic and systemic manifestations of patients diagnosed with ataxia-telangiectasia.","volume":"12","author":"F. Catal","year":"2014","journal-title":"Asim, Allerji, Immunoloji"},{"issue":"Supplement 1","key":"pone.0264177.ref530","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s12288-013-0253-4","article-title":"Detection of Acute Lymphoblastic Leukemia Involvement in Pleural Fluid in an Adult Patient with Ataxia Telangiectasia by Flow Cytometry Method.","volume":"30","author":"M. Keklik","year":"2014","journal-title":"Indian Journal of Hematology and Blood Transfusion"},{"issue":"4","key":"pone.0264177.ref531","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1089\/gte.1997.1.261","article-title":"Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay","volume":"1","author":"S.G. Grant","year":"1997","journal-title":"Genetic Testing"},{"issue":"8466","key":"pone.0264177.ref532","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1016\/S0140-6736(85)90766-4","article-title":"Diagnosis of ataxia-telangiectasia by T-lymphocyte cloning assay","volume":"2","author":"L. Henderson","year":"1985","journal-title":"Lancet"},{"issue":"6","key":"pone.0264177.ref533","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1111\/pde.12411","article-title":"Healing of granulomatous skin changes in ataxia-telangiectasia after treatment with intravenous immunoglobulin and topical mometasone 0.1% ointment","volume":"31","author":"E.D. Privette","year":"2014","journal-title":"Pediatric Dermatology"},{"issue":"1","key":"pone.0264177.ref534","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/S0213-9626(09)70023-X","article-title":"Immunodeficiency with ataxia telangiectasia. Case report","volume":"28","author":"I.M. Grau","year":"2009","journal-title":"Inmunologia"},{"issue":"8","key":"pone.0264177.ref535","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1172\/JCI105881","article-title":"Immunoglobulin metabolism in ataxia telangiectasia","volume":"47","author":"W. Strober","year":"1968","journal-title":"Journal of Clinical Investigation"},{"issue":"3","key":"pone.0264177.ref536","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.transci.2013.04.001","article-title":"The management of hyperleukocytosis in an adult patient with acute lymphoblastic leukemia and ataxia-telangiectasia.","volume":"48","author":"M. Keklik","year":"2013","journal-title":"Transfusion & Apheresis Science"},{"issue":"3","key":"pone.0264177.ref537","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.jpeds.2011.02.005","article-title":"Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?","volume":"159","author":"A. Nissenkorn","year":"2011","journal-title":"Journal of Pediatrics"},{"issue":"5","key":"pone.0264177.ref538","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1111\/j.1651-2227.1967.tb15424.x","article-title":"Ovarian changes in ataxia telangiectasia","volume":"56","author":"M.E. Miller","year":"1967","journal-title":"Acta Paediatrica Scandinavica"},{"issue":"12","key":"pone.0264177.ref539","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1212\/WNL.0000000000000794","article-title":"The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia","volume":"83","author":"A. Meneret","year":"2014","journal-title":"Neurology"},{"issue":"10","key":"pone.0264177.ref540","doi-asserted-by":"crossref","first-page":"e0139738","DOI":"10.1371\/journal.pone.0139738","article-title":"Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.","volume":"10","author":"Z. Chen","year":"2015","journal-title":"PLoS ONE [Electronic Resource]"},{"issue":"OCT","key":"pone.0264177.ref541","article-title":"Two novel mutations associated with ataxia-telangiectasia identified using an ion ampliSeq inherited disease panel","volume":"8","author":"M.V. Kuznetsova","year":"2017","journal-title":"Frontiers in Neurology"},{"issue":"4","key":"pone.0264177.ref542","first-page":"336","article-title":"Ataxia Telangiectasia. A case report","volume":"50","author":"J. Ramcharan","year":"2001","journal-title":"West Indian Medical Journal"},{"key":"pone.0264177.ref543","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1001\/jama.1961.03040090039007","article-title":"Ataxia-telangiectasia (Louis-Bar syndrome) with prominent sinopulmonary disease","volume":"175","author":"W.M. Teller","year":"1961","journal-title":"JAMA"},{"issue":"2","key":"pone.0264177.ref544","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1001\/archneur.1984.04050140035014","article-title":"Ataxia-telangiectasia","volume":"41","author":"R.R. Skoglund","year":"1984","journal-title":"Archives of Neurology"},{"issue":"5","key":"pone.0264177.ref545","first-page":"504","article-title":"A case of ataxia-telangiectasia with dystonia. Sural nerve biopsy findings","volume":"14","author":"N. Tachi","year":"1982","journal-title":"No To Hattatsu"},{"issue":"6","key":"pone.0264177.ref546","first-page":"A821","article-title":"Enlarging Neurological Spectrum of Ataxia-Telangiectasia","volume":"26","author":"J.B. Bodensteiner","year":"1978","journal-title":"Clinical Research"},{"key":"pone.0264177.ref547","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1097\/00005072-196307000-00015","article-title":"Ataxia-Telangiectasia. A Case with Lesions of Ovaries and Adenohypophysis","volume":"22","author":"D.H. Bowden","year":"1963","journal-title":"Journal of Neuropathology & Experimental Neurology"},{"issue":"10","key":"pone.0264177.ref548","first-page":"1375","article-title":"Coordination disorders in children with the Louis-Bar syndrome","volume":"79","author":"A.M. Aslanov","year":"1979","journal-title":"Zhurnal Nevropatologii i Psikhiatrii Imeni S\u2014S\u2014Korsakova"},{"issue":"SUPPL. 1","key":"pone.0264177.ref549","article-title":"Ataxia telangiectasia in dizygotic two year old twins","volume":"42","author":"M. Henrich","year":"2011","journal-title":"Neuropediatrics"},{"key":"pone.0264177.ref550","doi-asserted-by":"crossref","DOI":"10.4049\/jimmunol.178.Supp.35.11","article-title":"Ataxia-Telangiectasia, Associated with a Rare 1339C > T ATM mutation, presenting in infancy with Pneumocystis carinii pneumonia, and an elevated serum IgM","volume":"178","author":"F.M. Schaffer","year":"2007","journal-title":"Journal of Immunology"},{"issue":"3","key":"pone.0264177.ref551","doi-asserted-by":"crossref","first-page":"e28126","DOI":"10.1002\/pbc.28126","article-title":"EBV-directed viral-specific T-lymphocyte therapy for the treatment of EBV-driven lymphoma in two patients with primary immunodeficiency and DNA repair defects","volume":"67","author":"J.D. Rubinstein","year":"2020","journal-title":"Pediatr Blood Cancer"},{"issue":"Suppl 1","key":"pone.0264177.ref552","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1093\/annonc\/11.suppl_1.S141","article-title":"Non-Hodgkin\u2019s lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials.","volume":"11","author":"K. Seidemann","year":"2000","journal-title":"Annals of Oncology"},{"issue":"6","key":"pone.0264177.ref553","article-title":"Germline Mutations Including the Rare Pathogenic Variant c.3206delC in the ATM Gene Cause Ataxia Teleangiectasia-Associated Primary Central Nervous System Lymphoma.","volume":"8","author":"J.R. D\u00f6rr","year":"2021","journal-title":"Children (Basel)"},{"issue":"5","key":"pone.0264177.ref554","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1111\/j.1525-1470.2011.01409.x","article-title":"Skin manifestations in primary immunodeficient children","volume":"28","author":"W. Al-Herz","year":"2011","journal-title":"Pediatric Dermatology"},{"issue":"4","key":"pone.0264177.ref555","doi-asserted-by":"crossref","first-page":"A277","DOI":"10.1203\/00006450-198504000-01032","article-title":"The Effects of Isoprinosine in a Patient with Ataxia Telangiectasia","volume":"19","author":"C.U. Kyong","year":"1985","journal-title":"Pediatric Research"},{"issue":"3","key":"pone.0264177.ref556","first-page":"431","article-title":"A novel atm mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas","volume":"38","author":"E.W. Gelfand","year":"2018","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref557","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1177\/088307389400900106","article-title":"Cerebral white-matter changes suggesting leukodystrophy in ataxia telangiectasia","volume":"9","author":"E.O. Chung","year":"1994","journal-title":"Journal of Child Neurology"},{"issue":"3","key":"pone.0264177.ref558","first-page":"246","article-title":"Flow Cytometry-Based Radiosensitivity Assay: Application in Patient with Heterozygous Atm Mutation and Clinical Ataxia Telangiectasia Phenotype","volume":"36","author":"J.J. Jin","year":"2016","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref559","first-page":"258","article-title":"Severe combined immune deficiency (SCID): Need for universal newborn screening (NBS) in pennsylvania (PA).","volume":"37","author":"M. Bechis","year":"2017","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref560","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/S0022-3476(82)80253-9","article-title":"Prenatal diagnosis of ataxia telangiectasia","volume":"100","author":"M. Shaham","year":"1982","journal-title":"Journal of Pediatrics"},{"issue":"2","key":"pone.0264177.ref561","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/j.jaip.2020.08.008","article-title":"Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID).","volume":"9","author":"S. Barmettler","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"1","key":"pone.0264177.ref562","first-page":"139","article-title":"Acute lymphoblastic leukemia in children with associated genetic conditions other than Down\u2019s syndrome. The AIEOP experience","volume":"91","author":"O. Ziino","year":"2006","journal-title":"Haematologica"},{"issue":"8","key":"pone.0264177.ref563","first-page":"447","article-title":"Adult-onset ataxia-telangiectasia. A clinical and therapeutic observation","volume":"21","author":"J. Gazulla","year":"2006","journal-title":"Neurologia"},{"issue":"6","key":"pone.0264177.ref564","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.ejpn.2007.04.001","article-title":"Alpha fetoprotein is increasing with age in ataxia-telangiectasia","volume":"11","author":"A. Stray-Pedersen","year":"2007","journal-title":"European Journal of Paediatric Neurology"},{"issue":"4","key":"pone.0264177.ref565","first-page":"S115","article-title":"Amantadine Sulfate for Treatment of Movement Disorder in Ataxia-Telangiectasia","volume":"68","author":"A. Nissenkorn","year":"2010","journal-title":"Annals of Neurology"},{"issue":"2","key":"pone.0264177.ref566","first-page":"257","article-title":"Ataxia Telangiectasia\u2014Reduced Pyruvate-Dehydrogenase Activity with Lipid Storage in Type-1 Muscle-Fibers.","volume":"6","author":"K. Terasawa","year":"1984","journal-title":"Brain & Development"},{"issue":"3","key":"pone.0264177.ref567","first-page":"189","article-title":"Ataxia Telangiectasia with Burkitts-Lymphoma","volume":"63","author":"D.M. Guenther","year":"1979","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref568","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1136\/adc.53.5.386","article-title":"Ataxia telangiectasia. Evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test","volume":"53","author":"R. Cox","year":"1978","journal-title":"Archives of Disease in Childhood"},{"key":"pone.0264177.ref569","first-page":"14","article-title":"Ataxia telangiectasia: learning from previous mistakes","volume":"14","author":"N. Kumar","year":"2012","journal-title":"BMJ Case Reports"},{"issue":"1","key":"pone.0264177.ref570","first-page":"71","article-title":"Ataxia telangiectasia: report of two cases","volume":"34","author":"K.Y. Huang","year":"2001","journal-title":"Journal of Microbiology, Immunology & Infection"},{"issue":"125","key":"pone.0264177.ref571","first-page":"77","article-title":"Ataxia telangiectasia: review of 13 new cases","volume":"24","author":"O. Valbuena","year":"1996","journal-title":"Revista de Neurologia"},{"issue":"4","key":"pone.0264177.ref572","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1001\/archpedi.1958.02060050387007","article-title":"Ataxia, telangiectasia, and sinopulmonary infections; a syndrome of slowly progressive deterioration in childhood. A.M.A","volume":"95","author":"W.R. Centerwall","year":"1958","journal-title":"Journal of Diseases of Children"},{"issue":"3","key":"pone.0264177.ref573","first-page":"402","article-title":"Ataxia-Telangiectasia\u2014a Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia, and Frequent Pulmonary Infection","volume":"78","author":"E. Boder","year":"1958","journal-title":"Archives of Dermatology"},{"issue":"7","key":"pone.0264177.ref574","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1002\/1097-0142(19800401)45:7<1675::AID-CNCR2820450725>3.0.CO;2-D","article-title":"Ataxia-telangiectasia and acute lymphoblastic leukemia","volume":"45","author":"S.R. Toledano","year":"1980","journal-title":"Cancer"},{"issue":"3","key":"pone.0264177.ref575","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1111\/j.1651-2227.1982.tb09462.x","article-title":"Ataxia-Telangiectasia Associated with Non-T, Non-B Cell Acute Lymphocytic-Leukemia","volume":"71","author":"T. Sugimoto","year":"1982","journal-title":"Acta Paediatrica Scandinavica"},{"issue":"2","key":"pone.0264177.ref576","first-page":"S452","article-title":"Ataxia-telangiectasia in Moroccan patients","volume":"34","author":"L. Jeddane","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref577","doi-asserted-by":"crossref","first-page":"e28","DOI":"10.1097\/MPH.0b013e3181bfd3d9","article-title":"Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation","volume":"32","author":"B.M. Pietrucha","year":"2010","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"2","key":"pone.0264177.ref578","first-page":"115","article-title":"Ataxia-telangiectasia. X,14 translocation, progressive deterioration of lymphocyte numbers and function, and abnormal in vitro immunoglobulin production","volume":"69","author":"D.W. Beatty","year":"1986","journal-title":"South African Medical Journal"},{"issue":"4","key":"pone.0264177.ref579","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1017\/S0317167100007794","article-title":"Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment","volume":"36","author":"R.A. Yanofsky","year":"2009","journal-title":"Canadian Journal of Neurological Sciences"},{"issue":"Pt 6","key":"pone.0264177.ref580","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1111\/j.1529-8817.2005.00199.x","article-title":"ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia","volume":"69","author":"M. Mitui","year":"2005","journal-title":"Annals of Human Genetics"},{"issue":"6","key":"pone.0264177.ref581","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1002\/ajmg.1320450624","article-title":"Atypical clinical presentation of ataxia telangiectasia","volume":"45","author":"P.J. Willems","year":"1993","journal-title":"American Journal of Medical Genetics"},{"issue":"1","key":"pone.0264177.ref582","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/S0091-6749(96)81062-1","article-title":"Atypical presentation of ataxia-telangiectasia (AT) with features of non-x-linked HyperIgM (HIGM).","volume":"97","author":"L.M. Noroski","year":"1996","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref583","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.jaapos.2015.10.005","article-title":"Bilateral maculopathy in a patient with ataxia telangiectasia.","volume":"20","author":"L.V. Gioia","year":"2016","journal-title":"Journal of Aapos: American Association for Pediatric Ophthalmology & Strabismus"},{"issue":"SUPPL. 1","key":"pone.0264177.ref584","first-page":"2","article-title":"BPNSU study of chronic childhood ataxia in the UK and Ireland","volume":"55","author":"D. Friend","year":"2013","journal-title":"Developmental Medicine and Child Neurology"},{"issue":"1","key":"pone.0264177.ref585","doi-asserted-by":"crossref","first-page":"119","DOI":"10.3174\/ajnr.A3646","article-title":"Cerebral abnormalities in adults with ataxia-telangiectasia. Ajnr","volume":"35","author":"D.D. Lin","year":"2014","journal-title":"American Journal of Neuroradiology"},{"issue":"1","key":"pone.0264177.ref586","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s10048-019-00597-y","article-title":"Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey","volume":"21","author":"H. Mutlu-Albayrak","year":"2020","journal-title":"Neurogenetics"},{"issue":"6","key":"pone.0264177.ref587","first-page":"598","article-title":"Clinical and immunological observations in 13 patients suffering from ataxia-telangiectasia","volume":"24","author":"F. Marchetti","year":"1977","journal-title":"Folia Allergologica et Immunologica Clinica"},{"issue":"1","key":"pone.0264177.ref588","first-page":"47","article-title":"Clinical case of a child with ataxia-telangiectasia","volume":"49","author":"T. Lukanov","year":"2009","journal-title":"Pediatriya"},{"issue":"2","key":"pone.0264177.ref589","first-page":"140","article-title":"Clinico-genetic diagnosis of ataxia telangiectatica (Louis-Bar syndrome)","volume":"64","author":"E. Fuhrmann","year":"1993","journal-title":"Nervenarzt"},{"issue":"3","key":"pone.0264177.ref590","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.pediatrneurol.2014.04.027","article-title":"Cognitive phenotype in ataxia-telangiectasia","volume":"51","author":"F. Hoche","year":"2014","journal-title":"Pediatric Neurology"},{"issue":"15","key":"pone.0264177.ref591","article-title":"Compound Heterozygotes with Three Disparate Orphan Diseases: Pyridoxine Dependent Epilepsy, Ataxia Telangiectasia, and Tay Sachs Disease","volume":"90","author":"R. Young","year":"2018","journal-title":"Neurology"},{"issue":"1 Pt 1","key":"pone.0264177.ref592","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1542\/peds.102.1.98","article-title":"Consequences of the delayed diagnosis of ataxia-telangiectasia","volume":"102","author":"M.D. Cabana","year":"1998","journal-title":"Pediatrics"},{"issue":"2","key":"pone.0264177.ref593","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00588156","article-title":"Cranial CT and MRI in diseases with DNA repair defects","volume":"34","author":"P. Demaerel","year":"1992","journal-title":"Neuroradiology"},{"issue":"1","key":"pone.0264177.ref594","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/jcla.1860090115","article-title":"Decreased cytoplasmic immunoglobulin A production during Epstein-Barr virus immortalization on lymphocytes from patients with ataxia-telangiectasia","volume":"9","author":"M. Okano","year":"1995","journal-title":"Journal of Clinical Laboratory Analysis"},{"issue":"2","key":"pone.0264177.ref595","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1172\/JCI110768","article-title":"Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia","volume":"71","author":"T.A. Waldmann","year":"1983","journal-title":"Journal of Clinical Investigation"},{"issue":"11","key":"pone.0264177.ref596","doi-asserted-by":"crossref","first-page":"2728","DOI":"10.1007\/s00415-013-7046-4","article-title":"Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia","volume":"260","author":"A.G. Shaikh","year":"2013","journal-title":"Journal of Neurology"},{"issue":"4","key":"pone.0264177.ref597","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/j.1468-1331.2010.03203.x","article-title":"Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia","volume":"18","author":"T. Broccoletti","year":"2011","journal-title":"European Journal of Neurology"},{"issue":"4","key":"pone.0264177.ref598","first-page":"587","article-title":"Endocrinological studies in ataxiatelangiectasia and other immunological deficiency diseases.","volume":"6","author":"A.J. Ammann","year":"1970","journal-title":"Clinical & Experimental Immunology"},{"issue":"1","key":"pone.0264177.ref599","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1007\/s12017-013-8263-9","article-title":"Erratum: Twelve novel atm mutations identified in chinese ataxia telangiectasia patients (NeuroMolecular Medicine (2013) 15 (536\u2013540)","volume":"16","author":"Y. Huang","year":"2014","journal-title":"NeuroMolecular Medicine"},{"issue":"10","key":"pone.0264177.ref600","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1002\/humu.23778","article-title":"Functional classification of ATM variants in ataxia-telangiectasia patients","volume":"40","author":"A. Fievet","year":"2019","journal-title":"Hum Mutat"},{"issue":"3","key":"pone.0264177.ref601","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/j.1744-313X.2010.00989.x","article-title":"H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype","volume":"38","author":"L. Mesci","year":"2011","journal-title":"International Journal of Immunogenetics"},{"issue":"6","key":"pone.0264177.ref602","first-page":"720","article-title":"Hyper IGM syndrome as a presenting sign of ataxia telangiectasia and A.T like diseases (report of three cases).","volume":"34","author":"M. Amirmoini","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"4","key":"pone.0264177.ref603","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1001\/archneur.1976.00500040090021","article-title":"Letter: Negri bodies in a case of ataxia telangiectasia","volume":"33","author":"A. Golomb","year":"1976","journal-title":"Archives of Neurology"},{"issue":"2","key":"pone.0264177.ref604","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1017\/S0317167100046783","article-title":"Longitudinal evoked potential studies in hereditary ataxias","volume":"12","author":"M.J. Taylor","year":"1985","journal-title":"Canadian Journal of Neurological Sciences"},{"issue":"4","key":"pone.0264177.ref605","first-page":"489","article-title":"The Louis-Bar syndrome: Ataxia\u2014Telangiectasia","volume":"37","author":"P. Bearzoti","year":"1978","journal-title":"Revista Brasileira de Oftalmologia"},{"key":"pone.0264177.ref606","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.nicl.2015.08.007","article-title":"Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study","volume":"9","author":"I. Sahama","year":"2015","journal-title":"NeuroImage Clinical"},{"key":"pone.0264177.ref607","first-page":"S21","article-title":"Movement disorders in ataxia-telangiectasia","volume":"24","author":"A.G. Shaikh","year":"2009","journal-title":"Movement Disorders"},{"key":"pone.0264177.ref608","doi-asserted-by":"crossref","first-page":"26432","DOI":"10.3402\/ljm.v10.26432","article-title":"Mucocutaneous leishmaniasis in an 11-year-old girl with ataxia telangectasia\u2014case report","volume":"10","author":"S.S. Elfaituri","year":"2015","journal-title":"Libyan Journal of Medicine"},{"issue":"1\u20132","key":"pone.0264177.ref609","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2005.09.001","article-title":"Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia","volume":"241","author":"H. Jiang","year":"2006","journal-title":"Journal of the Neurological Sciences"},{"issue":"4","key":"pone.0264177.ref610","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/s10048-011-0299-0","article-title":"New mutations in the ATM gene and clinical data of 25 AT patients.","volume":"12","author":"I. Demuth","year":"2011","journal-title":"Neurogenetics"},{"issue":"5","key":"pone.0264177.ref611","first-page":"557","article-title":"Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study","volume":"85","author":"R. Riise","year":"2007","journal-title":"Acta Ophthalmologica Scandinavica"},{"issue":"5","key":"pone.0264177.ref612","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1055\/s-2008-1043972","article-title":"Pathogenesis, diagnosis, clinical and therapeutic aspects of ataxia telangiectasia","volume":"209","author":"T. Gungor","year":"1997","journal-title":"Klinische Padiatrie"},{"issue":"1","key":"pone.0264177.ref613","first-page":"208","article-title":"Progressive ataxia in an 11 year child\u2014A case report","volume":"4","author":"U.G. Rajoor","year":"2013","journal-title":"Indian Journal of Public Health Research and Development"},{"issue":"4","key":"pone.0264177.ref614","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1111\/j.1365-2141.2011.08863.x","article-title":"Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): A retrospective survey.","volume":"155","author":"B. Burkhardt","year":"2011","journal-title":"British Journal of Haematology"},{"key":"pone.0264177.ref615","article-title":"Pulmonary manifestations in patients with ataxia\u2014telangiectasia [A-T]","volume":"50","author":"H. Dmenska","year":"2017","journal-title":"European Respiratory Journal"},{"issue":"2","key":"pone.0264177.ref616","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.ejrad.2005.04.009","article-title":"Quantitative evaluation of brain involvement in ataxia telangiectasia by diffusion weighted MR imaging","volume":"56","author":"A.K. Firat","year":"2005","journal-title":"European Journal of Radiology"},{"issue":"Supplement 5","key":"pone.0264177.ref617","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/imj.2_13580","article-title":"A rare case of pulmonary lymphomatoid granulomatosis in a patient with ataxia telangiectasia","volume":"47","author":"N. Kaur","year":"2017","journal-title":"Internal Medicine Journal"},{"issue":"1","key":"pone.0264177.ref618","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1542\/peds.50.1.147","article-title":"Reversible neutrophil defect in ataxia telangiectasia","volume":"50","author":"R.R. Kretschmer","year":"1972","journal-title":"Pediatrics"},{"issue":"2","key":"pone.0264177.ref619","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ejpn.2012.06.002","article-title":"Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task","volume":"17","author":"M. Quarantelli","year":"2013","journal-title":"European Journal of Paediatric Neurology"},{"issue":"3","key":"pone.0264177.ref620","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/j.1468-1331.2008.02060.x","article-title":"Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients","volume":"15","author":"T. Broccoletti","year":"2008","journal-title":"European Journal of Neurology"},{"issue":"4","key":"pone.0264177.ref621","first-page":"486","article-title":"Sugammadex reversal of rocuronium-induced neuromuscular block in a patient with ataxia-telangiectasia","volume":"40","author":"E. Kang","year":"2015","journal-title":"Rawal Medical Journal"},{"issue":"2","key":"pone.0264177.ref622","first-page":"172","article-title":"Sural Nerve Findings of 2 Cases with Ataxia-Telangiectasia.","volume":"5","author":"N. Tachi","year":"1983","journal-title":"Brain & Development"},{"issue":"3","key":"pone.0264177.ref623","first-page":"270","article-title":"Therapeutic trial of TRH in cerebellar ataxia in childhood","volume":"2","author":"H. Sugie","year":"1980","journal-title":"Brain and Development"},{"issue":"9046","key":"pone.0264177.ref624","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0140-6736(05)60980-4","article-title":"Transfusion-associated graft-versus-host disease in ataxia telangiectasia","volume":"349","author":"H.G. Watson","year":"1997","journal-title":"Lancet"},{"issue":"11","key":"pone.0264177.ref625","doi-asserted-by":"crossref","first-page":"2018","DOI":"10.1002\/pbc.25621","article-title":"Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotin and reduced COPP plus rituximab.","volume":"62","author":"M.T. Meister","year":"2015","journal-title":"Pediatric Blood & Cancer"},{"issue":"6","key":"pone.0264177.ref626","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/(SICI)1096-911X(199812)31:6<491::AID-MPO5>3.0.CO;2-B","article-title":"Treatment of lymphoid malignancies in patients with ataxia-telangiectasia.","volume":"31","author":"C. Sandoval","year":"1998","journal-title":"Medical & Pediatric Oncology"},{"issue":"16","key":"pone.0264177.ref627","first-page":"1117","article-title":"Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxiatelangiectasia","volume":"85","author":"H. Jiang","journal-title":"National Medical Journal of China"},{"issue":"4","key":"pone.0264177.ref628","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1007\/s10689-021-00266-w","article-title":"The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay","volume":"20","author":"C. Kelaidi","year":"2021","journal-title":"Fam Cancer"},{"key":"pone.0264177.ref629","first-page":"1","article-title":"Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia.","author":"N.C. Khan","year":"2021","journal-title":"Cerebellum"},{"issue":"3","key":"pone.0264177.ref630","first-page":"202","article-title":"Survival of pediatric patients with primary immunodeficiencies in a public hospital in Western Mexico.","volume":"119","author":"M.E. Nunez-Nunez","year":"2021","journal-title":"Archivos Argentinos de Pediatria"},{"key":"pone.0264177.ref631","article-title":"Ataxia Telangiectasia: A View from the Lung","volume":"201","author":"J.A. Soler","year":"2020","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"5","key":"pone.0264177.ref632","first-page":"A64","article-title":"A rare cns complication of ataxia telangiectasia","volume":"111","author":"R. Chaiban","year":"2013","journal-title":"Annals of Allergy, Asthma and Immunology"},{"issue":"1\u20132","key":"pone.0264177.ref633","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/0022-510X(96)00158-X","article-title":"Vitamin E serum levels are normal in ataxia telangiectasia (Louis-Bar disease)","volume":"141","author":"C. Battisti","year":"1996","journal-title":"Journal of the Neurological Sciences"},{"issue":"2","key":"pone.0264177.ref634","first-page":"e1000029","article-title":"Donor-derived brain tumor following neural stem cell transplantation in an ataxia telangiectasia patient.","volume":"6","author":"N. Amariglio","year":"2009","journal-title":"PLoS Medicine \/ Public Library of Science"},{"issue":"3","key":"pone.0264177.ref635","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/ppul.22828","article-title":"Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia","volume":"49","author":"E. Felix","year":"2014","journal-title":"Pediatric Pulmonology"},{"issue":"6","key":"pone.0264177.ref636","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/pr.2016.19","article-title":"Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort","volume":"79","author":"A. Nissenkorn","year":"2016","journal-title":"Pediatric Research"},{"issue":"7","key":"pone.0264177.ref637","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/j.rmed.2015.05.013","article-title":"FVC deterioration, airway obstruction determination, and life span in Ataxia telangiectasia.","volume":"109","author":"D. Vilozni","year":"2015","journal-title":"Respiratory Medicine"},{"issue":"SUPPL. 58","key":"pone.0264177.ref638","article-title":"Late-breaking abstract: The Effect of lung volume deterioration on tidal volume, airway flows and life span in ataxia telangiectasia","volume":"44","author":"D. Vilozni","year":"2014","journal-title":"European Respiratory Journal"},{"issue":"7","key":"pone.0264177.ref639","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ppul.20838","article-title":"Polysomnographic values in adolescents with ataxia telangiectasia","volume":"43","author":"S.A. McGrath-Morrow","year":"2008","journal-title":"Pediatric Pulmonology"},{"issue":"SUPPL 1","key":"pone.0264177.ref640","first-page":"S150","article-title":"Ataxia Telangiectasia with Recurrent urinary tract infections and Sepsis","volume":"40","author":"Y. Chang","year":"2020","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref641","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/s12311-020-01175-x","article-title":"Altered Cerebrospinal Fluid (CSF) in Children with Ataxia Telangiectasia.","volume":"20","author":"S. Woelke","year":"2021","journal-title":"Cerebellum"},{"key":"pone.0264177.ref642","doi-asserted-by":"crossref","first-page":"108491","DOI":"10.1016\/j.clim.2020.108491","article-title":"Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study","volume":"217","author":"S. W\u00f6lke","year":"2020","journal-title":"Clin Immunol"},{"issue":"1","key":"pone.0264177.ref643","doi-asserted-by":"crossref","first-page":"e93","DOI":"10.5001\/omj.2020.11","article-title":"Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations","volume":"35","author":"M. Zaki-Dizaji","year":"2020","journal-title":"Oman Med J"},{"issue":"SUPPL. 1","key":"pone.0264177.ref644","first-page":"60","article-title":"The effect of ataxia telangiectasia in pregnancy and delivery: A case report","volume":"120","author":"L. Speers","year":"2013","journal-title":"BJOG: An International Journal of Obstetrics and Gynaecology"},{"issue":"1","key":"pone.0264177.ref645","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1055\/s-0037-1607216","article-title":"Neurovisual Assessment in Children with Ataxia Telangiectasia","volume":"49","author":"A. Iodice","year":"2018","journal-title":"Neuropediatrics"},{"issue":"6","key":"pone.0264177.ref646","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/S0002-9394(02)01796-8","article-title":"Ocular manifestations of ataxia-telangiectasia","volume":"134","author":"A.K. Farr","year":"2002","journal-title":"American Journal of Ophthalmology"},{"issue":"4","key":"pone.0264177.ref647","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1055\/s-2008-1035439","article-title":"Clinical Aspects of Ataxia-Telangiectasia (Louis-Bar Syndrome)","volume":"206","author":"S. Spang","year":"1995","journal-title":"Klinische Monatsblatter Fur Augenheilkunde"},{"issue":"3","key":"pone.0264177.ref648","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0387-7604(81)80051-4","article-title":"Ataxia-Telangiectasia (a-T)\u2014Contribution with 18 Personal Cases.","volume":"3","author":"S.I. Pascualpascual","year":"1981","journal-title":"Brain & Development"},{"issue":"8","key":"pone.0264177.ref649","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1136\/jnnp.2008.170522","article-title":"Gaze fixation deficits and their implication in ataxia-telangiectasia.","volume":"80","author":"A.G. Shaikh","year":"2009","journal-title":"Journal of Neurology, Neurosurgery & Psychiatry"},{"issue":"2","key":"pone.0264177.ref650","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/bjo.80.2.151","article-title":"Intermittent horizontal saccade failure (\u2019ocular motor apraxia\u2019) in children","volume":"80","author":"C.M. Harris","year":"1996","journal-title":"British Journal of Ophthalmology"},{"key":"pone.0264177.ref651","doi-asserted-by":"crossref","first-page":"S129","DOI":"10.4103\/0028-3886.178058","article-title":"Magnetic resonance imaging of ataxia-telangiectasia","volume":"64","author":"C. Zamora","year":"2016","journal-title":"Neurology India"},{"issue":"3","key":"pone.0264177.ref652","first-page":"686","article-title":"Slow target-directed eye movements in ataxia-telangiectasia.","volume":"43","author":"R.F. Lewis","year":"2002","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"pone.0264177.ref653","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1186\/s13023-015-0373-z","article-title":"Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study","volume":"10","author":"H. Pommerening","year":"2015","journal-title":"Orphanet Journal Of Rare Diseases"},{"issue":"10","key":"pone.0264177.ref654","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1111\/dmcn.13156","article-title":"Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.","volume":"58","author":"M.A. Lefton-Greif","year":"2016","journal-title":"Developmental Medicine & Child Neurology"},{"key":"pone.0264177.ref655","first-page":"S28","article-title":"Risk of Atherosclerosis and Diabetes in Patients with Ataxia Telangiectasia","volume":"35","author":"T.L. Paulino","year":"2015","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref656","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1007\/s12311-020-01107-9","article-title":"Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients","volume":"19","author":"L. Velazquez-Perez","year":"2020","journal-title":"Cerebellum"},{"issue":"1\u20132","key":"pone.0264177.ref657","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF00441871","article-title":"Ataxia telangiectasia with generalized skin pigmentation and early death","volume":"145","author":"M. Tsukahara","year":"1986","journal-title":"European Journal of Pediatrics"},{"issue":"5","key":"pone.0264177.ref658","first-page":"915","article-title":"Primary immunodeficiency diseases: a presentation of 6 cases.","volume":"21","author":"A.C. de Araujo","year":"1988","journal-title":"Brazilian Journal of Medical & Biological Research"},{"key":"pone.0264177.ref659","article-title":"Retroperitoneal extramedullary hematopoietic pseudotumor in ataxia-telangiectasia","author":"S.J.P. Judge","year":"2018","journal-title":"Rare tumors"},{"issue":"5","key":"pone.0264177.ref660","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1097\/00005072-197809000-00122","article-title":"Ataxia-Telangiectasia\u2014Clinicopathological Findings.","volume":"37","author":"E.C. Dooling","year":"1978","journal-title":"Journal of Neuropathology and Experimental Neurology"},{"issue":"2","key":"pone.0264177.ref661","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1007\/s12311-009-0138-0","article-title":"Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH\/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.","volume":"9","author":"M. Kieslich","year":"2010","journal-title":"Cerebellum"},{"key":"pone.0264177.ref662","first-page":"90","article-title":"Ataxia telangiectasia presenting as an extrapyramidal movement disorder and ocular motor apraxia without overt telangiectasia","volume":"28","author":"A. Churchyard","year":"1991","journal-title":"Clinical & Experimental Neurology"},{"issue":"4","key":"pone.0264177.ref663","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/mds.870090414","article-title":"Dystonia in ataxia telangiectasia: report of a case with putaminal lesions and decreased striatal [123I]iodobenzamide binding","volume":"9","author":"M. Koepp","year":"1994","journal-title":"Movement Disorders"},{"issue":"6","key":"pone.0264177.ref664","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1002\/mdc3.12533","article-title":"Similarity of Involuntary Postures between Different Children with Dystonia","volume":"4","author":"T.D. Sanger","year":"2017","journal-title":"Movement Disorders Clinical Practice"},{"issue":"6","key":"pone.0264177.ref665","doi-asserted-by":"crossref","first-page":"e67042","DOI":"10.1371\/journal.pone.0067042","article-title":"Disorders of Upper Limb Movements in Ataxia-Telangiectasia","volume":"8","author":"A.G. Shaikh","year":"2013","journal-title":"PLoS ONE [Electronic Resource],"},{"key":"pone.0264177.ref666","first-page":"S13","article-title":"Involuntary movements in ataxia-telangiectasia: Natural history and quantitative characteristics","volume":"22","author":"A.G. Shaikh","year":"2007","journal-title":"Movement Disorders"},{"issue":"1","key":"pone.0264177.ref667","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/s40368-013-0077-9","article-title":"Diagnostic dental radiographs not allowed! A child with ataxia telangiectasia.","volume":"15","author":"E.J. Keene","year":"2014","journal-title":"European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry"},{"issue":"5","key":"pone.0264177.ref668","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1002\/1096-911X(20001101)35:5<509::AID-MPO15>3.0.CO;2-Z","article-title":"Ataxia telangiectasia and Hodgkin disease.","volume":"35","author":"M.T. Kutluk","year":"2000","journal-title":"Medical & Pediatric Oncology"},{"issue":"6","key":"pone.0264177.ref669","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1097\/00005072-197911000-00007","article-title":"Ataxia-telangiectasia with a 32 year survival. A clinicopathological report.","volume":"38","author":"G.D. Amromin","year":"1979","journal-title":"Journal of Neuropathology & Experimental Neurology"},{"issue":"5","key":"pone.0264177.ref670","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1097\/00005072-197909000-00003","article-title":"Ataxia-telangiectasia. Report of a case with Lewy bodies and vascular abnormalities within cerebral tissue.","volume":"38","author":"D.P. Agamanolis","year":"1979","journal-title":"Journal of Neuropathology & Experimental Neurology"},{"issue":"3","key":"pone.0264177.ref671","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1097\/NRL.0b013e31815fa5a7","article-title":"Brain MRI abnormalities in ataxia-telangiectasia","volume":"14","author":"M. Habek","year":"2008","journal-title":"Neurologist"},{"issue":"4","key":"pone.0264177.ref672","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1055\/s-2008-1071405","article-title":"Computerized tomographic findings in a case of ataxia-telangiectasia (Louis-Bar syndrome).","volume":"11","author":"M. Scharnetzky","year":"1980","journal-title":"Neuropediatrics"},{"issue":"1","key":"pone.0264177.ref673","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/BF00588526","article-title":"Cranial MRI in ataxia-telangiectasia.","volume":"37","author":"F. Sardanelli","year":"1995","journal-title":"Neuroradiology"},{"issue":"11","key":"pone.0264177.ref674","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1177\/08830738050200110101","article-title":"Diagnostic approach to cerebellar disease in children","volume":"20","author":"S. D\u2019Arrigo","year":"2005","journal-title":"Journal of Child Neurology"},{"issue":"9","key":"pone.0264177.ref675","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1177\/0883073812448680","article-title":"Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients","volume":"27","author":"A. Al-Maawali","year":"2012","journal-title":"Journal of Child Neurology"},{"issue":"5","key":"pone.0264177.ref676","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1136\/jclinpath-2017-204708","article-title":"Infectious and non-infectious complications in primary immunodeficiency disorders: An autopsy study from North India","volume":"71","author":"K. Gupta","year":"2018","journal-title":"Journal of Clinical Pathology"},{"issue":"6","key":"pone.0264177.ref677","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1017\/cjn.2016.7","article-title":"Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia","volume":"43","author":"M.S. Salman","year":"2016","journal-title":"Canadian Journal of Neurological Sciences"},{"issue":"1","key":"pone.0264177.ref678","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.jaad.2007.08.013","article-title":"Primary cutaneous Epstein-Barr virus-related lymphoproliferative disorders in 4 immunosuppressed children","volume":"58","author":"N. Wallet-Faber","year":"2008","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"4","key":"pone.0264177.ref679","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1055\/s-2006-924722","article-title":"Proton MR spectroscopic imaging in ataxia-telangiectasia","volume":"37","author":"D.D. Lin","year":"2006","journal-title":"Neuropediatrics"},{"issue":"1","key":"pone.0264177.ref680","first-page":"79","article-title":"Proton spectroscopy and imaging at 3T in ataxia-telangiectasia.","volume":"28","author":"L.I. Wallis","year":"2007","journal-title":"Ajnr: American Journal of Neuroradiology"},{"issue":"4","key":"pone.0264177.ref681","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/BF00691840","article-title":"Sur l\u2019ataxie avec t\u00e9langiectasie, une observation anatomoclinique","volume":"3","author":"E. Osetowska","year":"1964","journal-title":"Acta Neuropathologica"},{"issue":"6","key":"pone.0264177.ref682","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.3174\/ajnr.A7107","article-title":"Accumulation of Brain Hypointense Foci on Susceptibility-Weighted Imaging in Childhood Ataxia Telangiectasia","volume":"42","author":"R.A. Dineen","year":"2021","journal-title":"AJNR Am J Neuroradiol"},{"issue":"3","key":"pone.0264177.ref683","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1111\/j.1469-8749.1973.tb04889.x","article-title":"Nerve conduction studies in children with Friedreich\u2019s ataxia and ataxia-telangiectasia.","volume":"15","author":"H.G. Dunn","year":"1973","journal-title":"Developmental Medicine & Child Neurology"},{"issue":"11","key":"pone.0264177.ref684","doi-asserted-by":"crossref","first-page":"2801","DOI":"10.1007\/s00381-020-04571-0","article-title":"Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy","volume":"36","author":"J.L. McKinney","year":"2020","journal-title":"Childs Nerv Syst"},{"issue":"1","key":"pone.0264177.ref685","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1423-0410.1969.tb00536.x","article-title":"Abnormalities in synthesis of some subclasses of gamma-G in a family with two cases of ataxia telangiectasia","volume":"17","author":"L. Rivat","year":"1969","journal-title":"Vox Sanguinis"},{"issue":"SUPPL. 2","key":"pone.0264177.ref686","first-page":"S189","article-title":"Alteration of humoral and cellular immunity in patients with ataxia-telangiectasia at reference center in Sao Paulo, Brazil","volume":"5","author":"L. Ornellas","year":"2012","journal-title":"World Allergy Organization Journal"},{"issue":"1","key":"pone.0264177.ref687","first-page":"A218","article-title":"Antibody Deficiency in Ataxia Telangiectasia, a Defect in Heavy-Chain Constant Gene Rearrangement","volume":"35","author":"K.H. Pyun","year":"1987","journal-title":"Clinical Research"},{"issue":"5","key":"pone.0264177.ref688","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1203\/00006450-197009000-00010","article-title":"Ataxia-Telangiectasia and Autoimmunity","volume":"4","author":"A.J. Ammann","year":"1970","journal-title":"Pediatric Research"},{"issue":"2","key":"pone.0264177.ref689","first-page":"386","article-title":"Ataxia-telangiectasia syndrome. Clinical and diagnostic aspects","volume":"111","author":"G. Diaconu","year":"2007","journal-title":"Revista Medico-Chirurgicala a Societatii de Medici Si Naturalisti Din Iasi"},{"issue":"3","key":"pone.0264177.ref690","first-page":"109","article-title":"Ataxia-telangiectasia with immunodeficiency and malignant lymphoma. Report of two cases","volume":"76","author":"F. Salinas","year":"1981","journal-title":"Medicina Clinica"},{"issue":"7502","key":"pone.0264177.ref691","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1016\/S0140-6736(67)92762-6","article-title":"Blasts in Ataxia-Telangiectasia","volume":"1","author":"H. Hayakawa","year":"1967","journal-title":"Lancet"},{"issue":"2","key":"pone.0264177.ref692","first-page":"236","article-title":"Cell Biological Diagnosis of Ataxia-Telangiectasia.","volume":"6","author":"T. Katsura","year":"1984","journal-title":"Brain & Development"},{"issue":"2","key":"pone.0264177.ref693","first-page":"98","article-title":"The clinical characteristic and diagnosis of 7 cases of ataxia- telangiectasia","volume":"33","author":"H. Jiang","year":"2000","journal-title":"Chinese Journal of Neurology"},{"issue":"5","key":"pone.0264177.ref694","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1080\/1744666X.2017.1292131","article-title":"The clinical significance of complete class switching defect in Ataxia telangiectasia patients","volume":"13","author":"S. Ghiasy","year":"2017","journal-title":"Expert Review of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref695","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1159\/000330335","article-title":"Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?","volume":"223","author":"L.Y. Chiam","year":"2011","journal-title":"Dermatology"},{"issue":"SUPPL. 2","key":"pone.0264177.ref696","first-page":"S189","article-title":"Descriptive analysis of the immunological behavior of patients with ataxia telangiectasia attended in the national institute of pediatrics in the past 30 years","volume":"5","author":"B.A. Llamas","year":"2012","journal-title":"World Allergy Organization Journal"},{"issue":"2","key":"pone.0264177.ref697","first-page":"A564","article-title":"Disorders of Immunoglobulin (Ig) Biosynthesis in Patients with Ataxia Telangiectasia (at)","volume":"30","author":"T.A. Waldmann","year":"1982","journal-title":"Clinical Research"},{"issue":"2","key":"pone.0264177.ref698","first-page":"196","article-title":"Epstein-Barr virus-related antibody patterns in ataxia-telangiectasia.","volume":"35","author":"A.I. Berkel","year":"1979","journal-title":"Clinical & Experimental Immunology"},{"issue":"2","key":"pone.0264177.ref699","article-title":"Immunodeficiency and infections in ataxia-telangiectasia","volume":"116","author":"N. Bobba","year":"2005","journal-title":"Pediatrics"},{"issue":"3700","key":"pone.0264177.ref700","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1126\/science.150.3700.1175","article-title":"Immunoglobulin A production in ataxia telangiectasia","volume":"150","author":"D.E. McFarlin","year":"1965","journal-title":"Science"},{"issue":"6","key":"pone.0264177.ref701","first-page":"1051","article-title":"Immunoglobulin Content of Intestinal Plasma Cells in Ataxia Telangiectasia","volume":"46","author":"S. Eidelman","year":"1967","journal-title":"Journal of Clinical Investigation"},{"issue":"9","key":"pone.0264177.ref702","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1056\/NEJM196908282810904","article-title":"Immunoglobulin E deficiency in ataxia-telangiectasia","volume":"281","author":"A.J. Ammann","year":"1969","journal-title":"New England Journal of Medicine"},{"issue":"3","key":"pone.0264177.ref703","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1027\/0838-1925.14.3.102","article-title":"Immunological evaluation in Brazilian ataxia telangiectasia patients","volume":"14","author":"A.S. Grumach","year":"2002","journal-title":"Allergy and Clinical Immunology International"},{"issue":"1","key":"pone.0264177.ref704","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1111\/j.1365-2249.2004.02492.x","article-title":"The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents. Clinical &","volume":"137","author":"A. Stray-Pedersen","year":"2004","journal-title":"Experimental Immunology"},{"issue":"5","key":"pone.0264177.ref705","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1023\/A:1020599810261","article-title":"Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia","volume":"19","author":"O. Sanal","year":"1999","journal-title":"Journal of Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref706","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/ppul.20209","article-title":"Interstitial lung disease in patients with ataxia-telangiectasia","volume":"39","author":"S.A. Schroeder","year":"2005","journal-title":"Pediatric Pulmonology"},{"issue":"3","key":"pone.0264177.ref707","first-page":"543","article-title":"A Low Molecular Weight Immunoglobulin Antigenically Related to Igm\u2014Studies in Ataxia Telangiectasia","volume":"9","author":"J.D. Stobo","year":"1966","journal-title":"Arthritis and Rheumatism"},{"issue":"5","key":"pone.0264177.ref708","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1111\/j.1651-2227.1985.tb10042.x","article-title":"Natural killer activity in two cases of ataxia telangiectasia","volume":"74","author":"H. Kashiwa","year":"1985","journal-title":"Acta Paediatrica Scandinavica"},{"issue":"3","key":"pone.0264177.ref709","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1177\/1203475415626085","article-title":"Noninfectious Granulomas: A Sign of an Underlying Immunodeficiency?","volume":"20","author":"I. Shoimer","year":"2016","journal-title":"Journal of Cutaneous Medicine & Surgery"},{"issue":"3","key":"pone.0264177.ref710","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1111\/j.1365-2249.2005.02791.x","article-title":"Pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine; immunogenicity in patients with ataxia-telangiectasia.","volume":"140","author":"A. Stray-Pedersen","year":"2005","journal-title":"Clinical & Experimental Immunology"},{"issue":"1","key":"pone.0264177.ref711","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/ppul.20738","article-title":"Pulmonary function in adolescents with ataxia telangiectasia.","volume":"43","author":"S. McGrath-Morrow","year":"2008","journal-title":"Pediatric Pulmonology"},{"key":"pone.0264177.ref712","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1750-1172-6-23","article-title":"Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia","volume":"6","author":"M.A. Lefton-Greif","year":"2011","journal-title":"Orphanet Journal Of Rare Diseases"},{"issue":"2","key":"pone.0264177.ref713","first-page":"366","article-title":"Safety of live viral vaccines and retrospective review of immunologic status of 329 patients with ataxia telangiectasia","volume":"32","author":"B. Uygungil","year":"2012","journal-title":"Journal of Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref714","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1159\/000023951","article-title":"Serum IgD concentrations in patients with ataxia telangiectasia and with selective IgA deficiency.","volume":"116","author":"O. Sanal","year":"1998","journal-title":"International Archives of Allergy & Immunology"},{"issue":"Supplement 103","key":"pone.0264177.ref715","first-page":"255","article-title":"Treatment of granulomas in patients with ataxia telangiectasia","volume":"72","author":"S. Woelke","year":"2017","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"issue":"8022","key":"pone.0264177.ref716","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1016\/S0140-6736(77)92425-4","article-title":"Unusual prevalence of antibodies to Epstein-Barr virus early antigen in ataxia telangiectasia","volume":"1","author":"J. Joncas","year":"1977","journal-title":"Lancet"},{"issue":"390","key":"pone.0264177.ref717","article-title":"Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia.","volume":"7","author":"A.K. Meyer","year":"2019","journal-title":"Frontiers in Pediatrics"},{"key":"pone.0264177.ref718","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.clim.2019.01.002","article-title":"A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas","volume":"200","author":"H. Minto","year":"2019","journal-title":"Clin Immunol"},{"issue":"5","key":"pone.0264177.ref719","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1002\/1097-0142(19940301)73:5<1522::AID-CNCR2820730533>3.0.CO;2-T","article-title":"Low-grade non-Hodgkin\u2019s lymphoma after high-grade non-Hodgkin\u2019s lymphoma in a child with ataxia telangiectasia.","volume":"73","author":"U. Overberg-Schmidt","year":"1994","journal-title":"Cancer"},{"issue":"2\u20133","key":"pone.0264177.ref720","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1080\/08820139.2020.1723104","article-title":"Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients","volume":"50","author":"P. Amirifar","year":"2021","journal-title":"Immunol Invest"},{"issue":"6","key":"pone.0264177.ref721","first-page":"365","article-title":"Iga deficiency","volume":"39","author":"C. Guiducci","year":"2020","journal-title":"Medico e Bambino"},{"issue":"5","key":"pone.0264177.ref722","doi-asserted-by":"crossref","first-page":"760","DOI":"10.5114\/ada.2020.100485","article-title":"Cutaneous and systemic granulomatosis in ataxia-telangiectasia: A clinico-pathological study","volume":"37","author":"A. Szczawinska-Poplonyk","year":"2020","journal-title":"Postepy Dermatologii i Alergologii"},{"issue":"4","key":"pone.0264177.ref723","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1515\/labmed-2016-0018","article-title":"Flow cytometry as an important tool in the diagnosis of immunodeficiencies demonstrated in a patient with ataxia-telangiectasia","volume":"40","author":"A. Stefano","year":"2016","journal-title":"Laboratoriumsmedizin-Journal of Laboratory Medicine"},{"issue":"2","key":"pone.0264177.ref724","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1080\/00207454.2020.1736582","article-title":"A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia","volume":"131","author":"H. Algahtani","year":"2021","journal-title":"Int J Neurosci"},{"issue":"6","key":"pone.0264177.ref725","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1097\/00005792-199911000-00002","article-title":"Oligo-\/monoclonal gammopathy and hypergammaglobulinemia in ataxia-telangiectasia. A study of 90 patients","volume":"78","author":"A.A. Sadighi Akha","year":"1999","journal-title":"Medicine"},{"issue":"2","key":"pone.0264177.ref726","first-page":"S285","article-title":"Tolerability of subcutaneous gamma globulin in two patients with ataxia telangiectasia","volume":"34","author":"V. Hernandez-Trujillo","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"4","key":"pone.0264177.ref727","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1023\/B:JOCI.0000029109.15355.ba","article-title":"Antibody response to a seven-valent pneumococcal conjugated vaccine in patients with ataxia-telangiectasia","volume":"24","author":"O. Sanal","year":"2004","journal-title":"Journal of Clinical Immunology"},{"issue":"11","key":"pone.0264177.ref728","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1056\/NEJM197803162981113","article-title":"Human serum thymic factor in antaxia-telangiectasia","volume":"298","author":"P.G. Mori","year":"1978","journal-title":"New England Journal of Medicine"},{"issue":"1","key":"pone.0264177.ref729","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1080\/15321819.2014.891525","article-title":"Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM.","volume":"36","author":"P. Mohammadinejad","year":"2015","journal-title":"Journal of Immunoassay & Immunochemistry"},{"issue":"9","key":"pone.0264177.ref730","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1097\/INF.0b013e3182936280","article-title":"Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype","volume":"32","author":"W.I. Lee","year":"2013","journal-title":"Pediatric Infectious Disease Journal"},{"issue":"1","key":"pone.0264177.ref731","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s10875-018-0581-0","article-title":"Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders","volume":"39","author":"D. Buchbinder","year":"2019","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref732","first-page":"1","article-title":"Evaluation of Radiation Sensitivity in Patients with Hyper IgM Syndrome","author":"S. Fekrvand","year":"2020","journal-title":"Immunological Investigations"},{"issue":"6","key":"pone.0264177.ref733","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1080\/08820139.2019.1692864","article-title":"Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature","volume":"49","author":"P. Amirifar","year":"2020","journal-title":"Immunol Invest"},{"issue":"1","key":"pone.0264177.ref734","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1172\/JCI107906","article-title":"Serum IgD and IgE concentrations in immunodeficiency diseases","volume":"55","author":"R.H. Buckley","year":"1975","journal-title":"Journal of Clinical Investigation"},{"issue":"7682","key":"pone.0264177.ref735","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1016\/S0140-6736(70)90326-0","article-title":", IgE IN ATAXIA-TELANGIECTASIA AND FAMILY MEMBERS","volume":"296","author":"D. Biggar","year":"1970","journal-title":"The Lancet"},{"issue":"1","key":"pone.0264177.ref736","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/S1081-1206(10)61711-5","article-title":"Adverse reactions of prophylactic intravenous immunoglobulin infusions in Iranian patients with primary immunodeficiency","volume":"92","author":"A. Aghamohammadi","year":"2004","journal-title":"Annals of Allergy, Asthma, & Immunology"},{"key":"pone.0264177.ref737","article-title":"Allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia patients without malignancy.","author":"S.S., J Bakhtiar","year":"2019"},{"issue":"1","key":"pone.0264177.ref738","first-page":"101","article-title":"Ataxia-Telangiectasia and mechanical ventilation: a word of caution.[Erratum appears in Pediatr Pulmonol. 2009 Feb;44(2):202\u20133].","volume":"44","author":"M.M. Verhagen","year":"2009","journal-title":"Pediatric Pulmonology,"},{"issue":"2","key":"pone.0264177.ref739","doi-asserted-by":"crossref","first-page":"AB227","DOI":"10.1016\/j.jaci.2015.12.876","article-title":"Case series of tolerability of SCIg in young adults with ataxia telangiectasia","volume":"137","author":"V.P. Hernandez-Trujillo","year":"2016","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref740","doi-asserted-by":"crossref","first-page":"558","DOI":"10.24953\/turkjped.2016.05.018","article-title":"Corynebacterium propinquum bronchopneumonia in a child with ataxia telangiectasia","volume":"58","author":"G. Malkocoglu","year":"2016","journal-title":"Turkish Journal of Pediatrics"},{"issue":"SUPPL. 1","key":"pone.0264177.ref741","first-page":"39","article-title":"Cutaneous granulomas arising in a patient with ataxia telangiectasia","volume":"57","author":"N. Biswas","year":"2016","journal-title":"Australasian Journal of Dermatology"},{"issue":"10","key":"pone.0264177.ref742","doi-asserted-by":"crossref","first-page":"861","DOI":"10.2217\/imt-2018-0038","article-title":"Efficacy, safety and quality of life in patients receiving subcutaneous IgG treatment: experience in Bogot\u00e1, Colombia","volume":"10","author":"M.C. Ortega-L\u00f3pez","year":"2018","journal-title":"Immunotherapy"},{"issue":"1","key":"pone.0264177.ref743","doi-asserted-by":"crossref","DOI":"10.1186\/s12887-018-1156-1","article-title":"Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia","volume":"18","author":"A. Krauthammer","year":"2018","journal-title":"BMC Pediatrics"},{"issue":"1","key":"pone.0264177.ref744","doi-asserted-by":"crossref","first-page":"e25","DOI":"10.1097\/MPH.0b013e3181bf29b6","article-title":"Idiopathic thrombocytopenic purpura in a boy with ataxia telangiectasia on immunoglobulin replacement therapy","volume":"32","author":"J. Heath","year":"2010","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"2","key":"pone.0264177.ref745","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.intimp.2014.09.015","article-title":"Immediate infusion-related adverse reactions to intravenous immunoglobulin in a prospective cohort of 1765 infusions","volume":"23","author":"D.C. Bichuetti-Silva","year":"2014","journal-title":"International Immunopharmacology"},{"key":"pone.0264177.ref746","first-page":"25","article-title":"Intralesional Steroids for the Treatment of Cutaneous Granulomas in Ataxia Telangiectasia","volume":"43","author":"A. Pinzon-Charry","year":"2013","journal-title":"Internal Medicine Journal"},{"issue":"1","key":"pone.0264177.ref747","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1186\/s13023-017-0689-y","article-title":"Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?","volume":"12","author":"T.L. Paulino","year":"2017","journal-title":"Orphanet Journal Of Rare Diseases"},{"issue":"2","key":"pone.0264177.ref748","first-page":"S152","article-title":"Long-term continuous intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia telangiectasia patients","volume":"34","author":"A. Soresina","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"SUPPL. 56","key":"pone.0264177.ref749","article-title":"The microbiology of lung disease in ataxia telangiectasia (AT)","volume":"40","author":"J. Bhatt","year":"2012","journal-title":"European Respiratory Journal"},{"key":"pone.0264177.ref750","article-title":"Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010\u20132017","author":"G.S. Amatuni","year":"2019","journal-title":"Pediatrics in Review"},{"issue":"1","key":"pone.0264177.ref751","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/s10875-019-0589-0","article-title":"Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma","volume":"39","author":"L. Perelygina","year":"2019","journal-title":"Journal of Clinical Immunology"},{"issue":"Supplement 3","key":"pone.0264177.ref752","first-page":"A397","article-title":"Primary immunodeficiencies (PID) of the child: About 16 cases","volume":"104","author":"B. Maalej","year":"2019","journal-title":"Archives of Disease in Childhood"},{"issue":"1","key":"pone.0264177.ref753","first-page":"38","article-title":"Primary immunodeficiency disorders in 51 cases","volume":"91","author":"S. Lamia","year":"2013","journal-title":"Tunisie Medicale"},{"issue":"1","key":"pone.0264177.ref754","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1002\/ppul.22760","article-title":"Pulmonary function in children and young adults with ataxia telangiectasia","volume":"49","author":"S.A. McGrath-Morrow","year":"2014","journal-title":"Pediatric Pulmonology"},{"key":"pone.0264177.ref755","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.jpeds.2016.01.002","article-title":"Serum Interleukin-6 Levels and Pulmonary Function in Ataxia-Telangiectasia","volume":"171","author":"S.A. McGrath-Morrow","year":"2016","journal-title":"Journal of Pediatrics"},{"issue":"6","key":"pone.0264177.ref756","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1007\/s10875-015-0190-0","article-title":"Subcutaneous Immunoglobulin Replacement Therapy with Hizentra is Safe and Effective in Children Less Than 5 Years of Age","volume":"35","author":"N.C. Patel","year":"2015","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref757","first-page":"139","article-title":"Adverse reactions of prophylactic intravenous immunoglobulin: A 13-year experience with 3004 infusions in Iranian patients with primary immunodeficiency diseases","volume":"19","author":"S. Dashti-Khavidaki","year":"2009","journal-title":"Journal of Investigational Allergology and Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref758","first-page":"S58","article-title":"Clinical features of patients with primary immunodeficiency under immunoglobulin replacement therapy at the hospital da crianca de brasilia jose alencar","volume":"37","author":"L.G. Ribeiro","year":"2017","journal-title":"Journal of Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref759","doi-asserted-by":"crossref","DOI":"10.3390\/v13050867","article-title":"The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia.","volume":"13","author":"A. M\u00e9ndez-Echevarr\u00eda","year":"2021","journal-title":"Viruses"},{"key":"pone.0264177.ref760","doi-asserted-by":"crossref","first-page":"686333","DOI":"10.3389\/fimmu.2021.686333","article-title":"Normal Numbers of Stem Cell Memory T Cells Despite Strongly Reduced Naive T Cells Support Intact Memory T Cell Compartment in Ataxia Telangiectasia.","volume":"12","author":"T.J. Weitering","year":"2021","journal-title":"Front Immunol,"},{"key":"pone.0264177.ref761","first-page":"S181","article-title":"The Role of Chest MRI in Guiding Treatment Decisions in Ataxia Telangiectasia: A Case Report.","volume":"56","author":"S. Glazer","year":"2021","journal-title":"Pediatric Pulmonology,"},{"issue":"2","key":"pone.0264177.ref762","doi-asserted-by":"crossref","first-page":"AB13","DOI":"10.1016\/j.jaci.2020.12.089","article-title":"New human immunoglobulin in Brazil: should we use?","volume":"147","author":"C. Ferreira","year":"2021","journal-title":"Journal of Allergy and Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref763","first-page":"2627","article-title":"Increased susceptibility of airway epithelial cells from ataxia-telangiectasia to S","volume":"9","author":"A.J. Yeo","year":"2019","journal-title":"pneumoniae infection due to oxidative damage and impaired innate immunity. Scientific reports"},{"issue":"7344","key":"pone.0264177.ref764","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/S0140-6736(64)91209-7","article-title":"Ataxia-Telangiectasia. Its Association with a Defective Thymus, Immunological-Deficiency Disease, and Malignancy.","volume":"1","author":"R.D. Peterson","year":"1964","journal-title":"Lancet"},{"issue":"12","key":"pone.0264177.ref765","first-page":"685","article-title":"Ataxia-telangiectasia and cancer of the childhood in Costa Rica","volume":"52","author":"F. Lobo-Sanahuja","year":"1995","journal-title":"Boletin Medico del Hospital Infantil de Mexico"},{"issue":"23","key":"pone.0264177.ref766","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1056\/NEJM197506052922309","article-title":"Case 22\u20131975: Young Man with Telangiectases, Glioma and Peripheral Lymphadenopathy","volume":"292","author":"J.T. Truman","year":"1975","journal-title":"New England Journal of Medicine"},{"issue":"4","key":"pone.0264177.ref767","first-page":"400","article-title":", Coordination between respiration and deglutition in children with Ataxia-Telangiectasia (A-T).","volume":"22","author":"M.A. Lefton-Greif","year":"2007","journal-title":"Dysphagia"},{"key":"pone.0264177.ref768","article-title":"Ataxia telangiectasia as a rare cause of non-alcoholic steatohepatitis","author":"D.D. Kozielewicz D","year":"2018","journal-title":"Clinical and Experimental Hepatology"},{"issue":"SUPPL. 1","key":"pone.0264177.ref769","article-title":"Ataxia-telangiectasia: Immunologic profile and clinical outcome","volume":"8","author":"C. De Lima Honorio Dumas","year":"2015","journal-title":"World Allergy Organization Journal"},{"issue":"3","key":"pone.0264177.ref770","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1055\/s-0031-1281838","article-title":"Bilateral conjunctival manifestation of a generalized Kaposi\u2019s sarcoma in a patient with ataxia teleangiectatica (Louis-Bar-Syndrome)","volume":"229","author":"M. Keseru","year":"2012","journal-title":"Klinische Monatsblatter fur Augenheilkunde"},{"key":"pone.0264177.ref771","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.nut.2017.08.008","article-title":"Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia.","volume":"46","author":"A. Krauthammer","year":"2018","journal-title":"Nutrition"},{"issue":"7","key":"pone.0264177.ref772","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1007\/s10875-013-9933-y","article-title":"Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging","volume":"33","author":"S. Montella","year":"2013","journal-title":"Journal of Clinical Immunology"},{"issue":"9","key":"pone.0264177.ref773","doi-asserted-by":"crossref","first-page":"643","DOI":"10.7326\/0003-4819-155-9-201111010-00017","article-title":"Discovery at the bedside","volume":"155","author":"O. Oren","year":"2011","journal-title":"Annals of Internal Medicine"},{"issue":"187","key":"pone.0264177.ref774","first-page":"77","article-title":"Ataxia telangiectasia (Spanish)","volume":"32","author":"J. Perez Gonzalez","year":"1976","journal-title":"Revista Espanola de Pediatria"},{"key":"pone.0264177.ref775","first-page":"18","article-title":"Clinical, biological, and genetic characteristics of 242 patients affected with Ataxia-Telangiectasia: a retrospective analysis from the French primary immunodeficiency registry (CEREDIH).","volume":"154","author":"R. Micol","year":"2008","journal-title":"Clinical and Experimental Immunology"},{"issue":"1","key":"pone.0264177.ref776","first-page":"40","article-title":", Ataxia telangiectasia and secondary diseases.","volume":"47","author":"T. Patiroglu","year":"2012","journal-title":"Turk Pediatri Arsivi"},{"key":"pone.0264177.ref777","article-title":"Early experience of oxygen enhanced magnetic resonance imaging (OE-MRI) in ataxia telangiectasia (A-T).","author":"A.T., M Prayle","year":"2018","journal-title":"European Respiratory Journal"},{"issue":"SUPPL. 92","key":"pone.0264177.ref778","first-page":"741","article-title":"Effects of growth hormone on dystrophy and immune status in a patient with ataxia telangiectasia","volume":"65","author":"M. Christmann","year":"2010","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref779","first-page":"516","article-title":"Hemorrhagic cystitis in a child with Hodgkin lymphoma and ataxia-telangiectasia after cyclophosphamide. Pediatric Blood &","volume":"53","author":"N.E. Kaymaz","year":"2009","journal-title":"Cancer"},{"issue":"11","key":"pone.0264177.ref780","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1136\/thoraxjnl-2016-208667","article-title":"Diagnosis of pneumothorax without exposure to ionising radiation.","volume":"71","author":"R.M. Ammendola","year":"2016","journal-title":"Thorax"},{"issue":"7","key":"pone.0264177.ref781","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1203\/00006450-197907000-00002","article-title":"Effect of thymic humoral factor on cellular immune factors of normal children and of pediatric patients with ataxia telangiectasia and Down\u2019s syndrome","volume":"13","author":"Z.T. Handzel","year":"1979","journal-title":"Pediatric Research"},{"key":"pone.0264177.ref782","article-title":"Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management","volume":"01","author":"S.A. Upadhyaya","year":"2017","journal-title":"Journal of Pediatric Hematology\/Oncology."},{"issue":"4","key":"pone.0264177.ref783","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1203\/00006450-198104001-00831","article-title":"Immunodeficiency (Id) as a Susceptibility Factor for Malignancy in Ataxia-Telangiectasia (a-T)\u2014Report from the Immunodeficiency-Cancer-Registry (Icr).","volume":"15","author":"A.H. Filipovich","year":"1981","journal-title":"Pediatric Research"},{"issue":"Suppl 1","key":"pone.0264177.ref784","first-page":"307","article-title":"Malignant neoplasms in registered cases of primary immunodeficiency syndrome","volume":"15","author":"N. Kobayashi","year":"1985","journal-title":"Japanese Journal of Clinical Oncology"},{"issue":"1","key":"pone.0264177.ref785","first-page":"89","article-title":"Mortality and cancer incidence in 263 patients with ataxia-telangiectasia","volume":"77","author":"D. Morrell","year":"1986","journal-title":"Journal of the National Cancer Institute"},{"issue":"2","key":"pone.0264177.ref786","first-page":"67","article-title":"A patient with an immunodeficiency and consecutively 3 primary malignancies","volume":"57","author":"J.J. Groot-Loonen","year":"1989","journal-title":"Tijdschrift voor Kindergeneeskunde"},{"issue":"232","key":"pone.0264177.ref787","article-title":"Primary immunodeficiencies and oncological risk: The experience of the Children\u2019s Hospital of Brescia","volume":"7","author":"M. Maffeis","year":"2019","journal-title":"Frontiers in Pediatrics"},{"issue":"2","key":"pone.0264177.ref788","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.clim.2014.10.003","article-title":"Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy","volume":"156","author":"B.M. Jonkman-Berk","year":"2015","journal-title":"Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref789","first-page":"74","article-title":"Primary immunodeficiency diseases and malignancy in Japan","volume":"77","author":"H. Hayakawa","year":"1986","journal-title":"Japanese Journal of Cancer Research"},{"issue":"11\u201312","key":"pone.0264177.ref790","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/S0161-5890(98)90518-1","article-title":"Proneness to cancer in Polish Ataxia-Telangiectasia and Nijmegen breakage syndrome families","volume":"35","author":"B. Pietrucha","year":"1998","journal-title":"Molecular Immunology"},{"issue":"5","key":"pone.0264177.ref791","first-page":"S10","article-title":"Relationship of immunodeficiency to lymphoid malignancy","volume":"7","author":"J.H. Kersey","year":"1988","journal-title":"Pediatric Infectious Disease Journal"},{"issue":"Supplement 102","key":"pone.0264177.ref792","first-page":"309","article-title":"Susceptibility to infections in patients with ataxia-telangiectasia (AT): A prospective follow-up study","volume":"71","author":"S. Zielen","year":"2016","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref793","first-page":"153","article-title":"Congenital defects in the immune system in the Stavropol Region.","volume":"16","author":"L.Y.U. Barycheva","year":"2021","journal-title":"Medical News of North Caucasus"},{"issue":"8","key":"pone.0264177.ref794","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/0360-3016(87)90200-8","article-title":"Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia.","volume":"13","author":"R.M. Hart","year":"1987","journal-title":"International Journal of Radiation Oncology, Biology, Physics"},{"issue":"5","key":"pone.0264177.ref795","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1080\/08880010490457231","article-title":"Malignant solid tumors associated with congenital immunodeficiency disorders.","volume":"21","author":"A. Varan","year":"2004","journal-title":"Pediatric Hematology & Oncology"},{"issue":"5","key":"pone.0264177.ref796","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1111\/bjh.17736","article-title":"The incidence and type of cancer in patients with ataxia-telangiectasia via a retrospective single-centre study","volume":"194","author":"S. Bakhtiar","year":"2021","journal-title":"Br J Haematol"},{"issue":"22","key":"pone.0264177.ref797","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1182\/blood.V114.22.1101.1101","article-title":"Malignancies and Outcome in Patients with Ataxia-Telangiectasia: Results From the French National Registry for Primary Immune Deficiencies","volume":"114","author":"F. Suarez","year":"2009","journal-title":"Blood"},{"issue":"8","key":"pone.0264177.ref798","doi-asserted-by":"crossref","first-page":"e511","DOI":"10.1097\/MPH.0000000000001294","article-title":"Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations","volume":"40","author":"A. Mijalovsky","year":"2018","journal-title":"Journal of Pediatric Hematology Oncology"},{"issue":"Supplement 1","key":"pone.0264177.ref799","first-page":"973","article-title":"Peritoneal mesothelioma in an infant with familial ATM mutations","volume":"26","author":"D. Halperin","year":"2019","journal-title":"European Journal of Human Genetics"},{"key":"pone.0264177.ref800","first-page":"31","article-title":"Pleural Mesothelioma in a Patient with Ataxia Telangiectasia","volume":"20","author":"S. Boga","year":"2009","journal-title":"Annals of Oncology"},{"issue":"8","key":"pone.0264177.ref801","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1080\/088800101753328448","article-title":"Parotid and thyroid gland cancers in patients with ataxia-telangiectasia.","volume":"18","author":"C. Sandoval","year":"2001","journal-title":"Pediatric Hematology & Oncology"},{"issue":"6","key":"pone.0264177.ref802","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1001\/archpedi.1967.02090270073006","article-title":"Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis","volume":"114","author":"S.P. Gotoff","year":"1967","journal-title":"American Journal of Diseases of Children"},{"issue":"5","key":"pone.0264177.ref803","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1203\/00006450-196909000-00001","article-title":"Childhood cancer and congenital defects a study of U.S. Death certificates during the period 1960\u20131966","volume":"3","author":"R.W. Miller","year":"1969","journal-title":"Pediatric Research"},{"issue":"1","key":"pone.0264177.ref804","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1053\/clon.1999.9013","article-title":"Testicular seminoma in a patient with ataxia-telangiectasia","volume":"11","author":"H.A. Phillips","year":"1999","journal-title":"Clinical Oncology (Royal College of Radiologists)"},{"issue":"10","key":"pone.0264177.ref805","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1212\/WNL.26.10.947","article-title":"Neuropathologic changes in ataxia-telangiectasia","volume":"26","author":"G.A. De Leon","year":"1976","journal-title":"Neurology"},{"issue":"6","key":"pone.0264177.ref806","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1080\/08880010701451434","article-title":"Dysgerminoma in a child with ataxia-telangiectasia.","volume":"24","author":"Y. Koksal","year":"2007","journal-title":"Pediatric Hematology & Oncology"},{"issue":"3","key":"pone.0264177.ref807","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1111\/pde.13779","article-title":"Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome.","volume":"36","author":"R. Duffy","year":"2019","journal-title":"Pediatric Dermatology"},{"issue":"4","key":"pone.0264177.ref808","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s002470050578","article-title":"Malignancies in pediatric patients with ataxia telangiectasia.","volume":"29","author":"R.C. Murphy","year":"1999","journal-title":"Pediatric Radiology"},{"issue":"8","key":"pone.0264177.ref809","doi-asserted-by":"crossref","first-page":"e341","DOI":"10.1097\/MPH.0b013e318279b3f7","article-title":"Gastric signet ring carcinoma in a patient with ataxia-telangiectasia: a case report and review of the literature","volume":"35","author":"T. Patiroglu","year":"2013","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"1","key":"pone.0264177.ref810","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1089\/ped.2014.0453","article-title":"Malignancies in Primary Immunodeficiencies: A Single Center Experience.","volume":"28","author":"T. Patiroglu","year":"2015","journal-title":"Pediatric, Allergy, Immunology, and Pulmonology"},{"issue":"9","key":"pone.0264177.ref811","first-page":"742","article-title":"Intestinal-type gastric adenocarcinoma in a patient with ataxia-telangiectasia syndrome","volume":"112","author":"J.M. L\u00f3pez Tobaruela","year":"2020","journal-title":"Rev Esp Enferm Dig"},{"issue":"1","key":"pone.0264177.ref812","first-page":"152","article-title":"23-year-old female patient with ataxia telangiectasia and metastatic clear cell hepatocellular carcinoma","volume":"32","author":"A.E. Salazar-Marcelino","year":"2016","journal-title":"Medicina Interna de Mexico"},{"issue":"1","key":"pone.0264177.ref813","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/BF00428672","article-title":"Ataxia-telangiectasia with renal cell carcinoma and hepatoma","volume":"389","author":"F. Yoshitomi","year":"1980","journal-title":"Virchows Archiv. A, Pathological Anatomy & Histology"},{"issue":"3","key":"pone.0264177.ref814","first-page":"203","article-title":"Oncologic complications and cytogenetic features of ataxia telangiectasia","volume":"47","author":"A. Deschildre","year":"1990","journal-title":"Archives Francaises de Pediatrie"},{"issue":"1","key":"pone.0264177.ref815","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/08923973.2011.567989","article-title":"Hepatic non-Hodgkin lymphoma and hepatoblastoma complicating ataxia-telangiectasia.","volume":"34","author":"V. Cecinati","year":"2012","journal-title":"Immunopharmacology & Immunotoxicology"},{"key":"pone.0264177.ref816","first-page":"S308","article-title":"Pediatric hepatocellular carcinoma: A 23-year experience at a single institution","author":"M.L. Cosentini","year":"2015","journal-title":"Argentina. Pediatric Blood and Cancer"},{"issue":"5","key":"pone.0264177.ref817","doi-asserted-by":"crossref","first-page":"265","DOI":"10.2177\/jsci.8.265","article-title":"Primary immunodeficiency diseases and malignancy-Asummary of the cases reported to the All Japan lmmunodeficiency Registry","volume":"8","author":"H. Hayakawa","year":"1985","journal-title":"Japanese Journal of Clinical Immunology"},{"key":"pone.0264177.ref818","first-page":"255","article-title":"Progressive liver disease in patients with ataxia telangiectasia","author":"S. Woelke","year":"2017","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref819","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00000441-197909000-00008","article-title":"Ataxia-telangiectasia and hepatocellular carcinoma","volume":"278","author":"G. Krishna Kumar","year":"1979","journal-title":"American Journal of the Medical Sciences"},{"issue":"3","key":"pone.0264177.ref820","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1080\/088800102753541314","article-title":"Chemo- and radiosensitivity testing in a patient with ataxia telangiectasia and Hodgkin disease.","volume":"19","author":"R.Y. Tamminga","year":"2002","journal-title":"Pediatric Hematology & Oncology"},{"issue":"3","key":"pone.0264177.ref821","first-page":"189","article-title":"Chemotherapy alone as a treatment of Hodgkin\u2019s disease in two children with ataxia teleangiectasia.","volume":"41","author":"J. Armata","year":"1991","journal-title":"Nowotwory"},{"issue":"6","key":"pone.0264177.ref822","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1002\/ppul.10422","article-title":"Cytomegalovirus pneumonitis in a patient with Hodgkin disease and ataxia-telangiectasia","volume":"37","author":"C. Sandoval","year":"2004","journal-title":"Pediatric Pulmonology"},{"issue":"4","key":"pone.0264177.ref823","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1203\/00006450-198104001-00509","article-title":"Descriptive Epidemiology of Malignancy in Ataxia-Telangiectasia (a-T)\u2014an Immunodeficiency-Cancer Registry (Icr) Report.","volume":"15","author":"B.D. Spector","year":"1981","journal-title":"Pediatric Research"},{"issue":"3","key":"pone.0264177.ref824","first-page":"409","article-title":"The evaluation of malignancies in Turkish pid patients; A multicenter study","volume":"38","author":"S. Cekic","year":"2018","journal-title":"Journal of Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref825","first-page":"291","article-title":"Hematological malignancies in children with ataxia-telangiectasia\u2014A diffi cult clinical problem","volume":"43","author":"A. Szudy","year":"2012","journal-title":"Acta Haematologica Polonica"},{"issue":"21","key":"pone.0264177.ref826","doi-asserted-by":"crossref","DOI":"10.1182\/blood.V124.21.1634.1634","article-title":"Histological characteristics of ataxia telangiectasia associated lymphoproliferative diseases. Results of the french registry of primary immune deficiencies","volume":"124","author":"D. Canioni","year":"2014","journal-title":"Blood"},{"issue":"3","key":"pone.0264177.ref827","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/mpo.10251","article-title":"Hodgkin disease in ataxia-telangiectasia patients with poor outcomes.","volume":"40","author":"C. Sandoval","year":"2003","journal-title":"Medical & Pediatric Oncology"},{"issue":"7","key":"pone.0264177.ref828","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1007\/s10875-016-0324-z","article-title":"Lymphoma Secondary to Congenital and Acquired Immunodeficiency Syndromes at a Turkish Pediatric Oncology Center","volume":"36","author":"H.G. Tanyildiz","year":"2016","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref829","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.anpedi.2011.02.011","article-title":"Sclerosing cholangitis, ataxia-telangiectasia and Hodgkin\u2019s disease","volume":"75","author":"M. Tallon Garcia","year":"2011","journal-title":"Anales de Pediatria"},{"issue":"2","key":"pone.0264177.ref830","doi-asserted-by":"crossref","first-page":"163","DOI":"10.3109\/08880019509029550","article-title":"Ataxia telangiectasia and lymphoma: An indication for individualized chemotherapy dosing\u2014report of treatment in a highly inbred arab family","volume":"12","author":"M.W. Ben Arush","year":"1995","journal-title":"Pediatric Hematology and Oncology"},{"issue":"3","key":"pone.0264177.ref831","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1097\/00005072-197705000-00020","article-title":"Ataxia-Telangiectasia\u2014Autopsy Findings in a 31-Year-Old Woman","volume":"36","author":"G.D. Amromin","year":"1977","journal-title":"Journal of Neuropathology and Experimental Neurology"},{"issue":"3","key":"pone.0264177.ref832","doi-asserted-by":"crossref","first-page":"235","DOI":"10.3109\/08880019109033457","article-title":"Leiomyoma of the suprarenal gland in a child with ataxia-telangiectasia.","volume":"8","author":"F. Mouchet","year":"1991","journal-title":"Pediatric Hematology & Oncology"},{"key":"pone.0264177.ref833","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2017.00714","article-title":"Primary immunodeficiency disorders in India-A situational review","volume":"8","author":"A.K. Jindal","year":"2017","journal-title":"Frontiers in Immunology"},{"issue":"4","key":"pone.0264177.ref834","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1055\/s-2008-1066517","article-title":"Splenic leiomyoma: an uncommon localization","volume":"6","author":"P. Oguzkurt","year":"1996","journal-title":"European Journal of Pediatric Surgery"},{"issue":"2","key":"pone.0264177.ref835","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/0165-4608(87)90055-0","article-title":"Distinct chromosome abnormalities in ataxia telangiectasia with chronic T-cell lymphocytic leukemia.","volume":"26","author":"R. Becher","year":"1987","journal-title":"Cancer Genetics & Cytogenetics"},{"issue":"4","key":"pone.0264177.ref836","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/ijc.2910370407","article-title":"Clonal evolution of T-cell chronic lymphocytic leukaemia in a patient with ataxia telangiectasia","volume":"37","author":"A.M. Taylor","year":"1986","journal-title":"International Journal of Cancer"},{"issue":"4","key":"pone.0264177.ref837","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/0165-4608(80)90041-2","article-title":"Cytogenetic abnormalities in ataxia telangiectasia with T-cell chronic lymphocytic leukemia","volume":"1","author":"R.S. Sparkes","year":"1980","journal-title":"Cancer Genetics and Cytogenetics"},{"issue":"13","key":"pone.0264177.ref838","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1056\/NEJM197903293001303","article-title":"Helper and suppressor t-lymphocyte leukemia in ataxia telangiectasia","volume":"300","author":"A. Saxon","year":"1979","journal-title":"New England Journal of Medicine"},{"issue":"SUPPL. 2","key":"pone.0264177.ref839","first-page":"S190","article-title":"Malignancies associated to primary immunodeficiencies. A 40 year review","volume":"5","author":"C. Espana","year":"2012","journal-title":"World Allergy Organization Journal"},{"issue":"17","key":"pone.0264177.ref840","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1056\/NEJM197910253011719","article-title":"T-cell leukemia in ataxia telangiectasia","volume":"301","author":"A. Saxon","year":"1979","journal-title":"New England Journal of Medicine"},{"issue":"2","key":"pone.0264177.ref841","doi-asserted-by":"crossref","DOI":"10.1055\/s-0032-1307087","article-title":"Ataxia Telangiectasia (AT) as a radiation sensitivity syndrom and limits of radiotherapeutic intervention","volume":"43","author":"F. Hoche","year":"2012","journal-title":"Neuropediatrics"},{"issue":"6","key":"pone.0264177.ref842","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1177\/030089168106700613","article-title":"Ataxia telangiectasia and acute lymphoblastic leukemia: report of a case","volume":"67","author":"G. Pastore","year":"1981","journal-title":"Tumori"},{"issue":"4","key":"pone.0264177.ref843","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/0165-4608(82)90091-7","article-title":"Chromosomes and causation of human cancer and leukemia. XLVIII. T-cell acute leukemia in ataxia telangiectasia.","volume":"6","author":"N. Wake","year":"1982","journal-title":"Cancer Genetics & Cytogenetics"},{"issue":"SUPPL. 1","key":"pone.0264177.ref844","doi-asserted-by":"crossref","first-page":"S41","DOI":"10.1016\/S1473-0502(12)70079-4","article-title":"The control of acute lymphoblastic leukaemia caused hyperleukocytosis with leukopheresis on an adult ataxia-telangiectasia patient","volume":"47","author":"M. Keklik","year":"2012","journal-title":"Transfusion and Apheresis Science"},{"issue":"SUPPL. 96","key":"pone.0264177.ref845","first-page":"274","article-title":"Effects of Growth Hormone treatment on dystrophy and immune status in patients with Ataxia telangiectasia","volume":"67","author":"M. Christmann","year":"2012","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"key":"pone.0264177.ref846","first-page":"S259","article-title":"Hematologic Malignancies in Children and Adolescents with Ataxia Telangiectasia: 20 Years of Nationwide Experience in France.","volume":"66","author":"M. Thibaud","year":"2019","journal-title":"Pediatric Blood & Cancer"},{"issue":"12","key":"pone.0264177.ref847","first-page":"1142","article-title":"Increased radiation sensitivity of fibroblasts in ataxia telangiectasia with acute lymphocytic leukemia","volume":"135","author":"S.K. Ali","year":"1981","journal-title":"American Journal of Diseases of Children"},{"issue":"3","key":"pone.0264177.ref848","first-page":"163","article-title":"Primary immunodeficiency and cancer. 5 case reports","volume":"40","author":"J.C. Mselati","year":"1983","journal-title":"Archives Francaises de Pediatrie"},{"issue":"2","key":"pone.0264177.ref849","first-page":"381","article-title":"Ataxia-telangiectasia and CD8 + T cells acute lymphoid leukemia in a Brazilian Patient: A Case Report","volume":"32","author":"L.B. Ferreira","year":"2012","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref850","first-page":"88","article-title":"Functional and molecular characteristics of acute lymphoblastic leukemia cells with a mature T-cell phenotype from a patient with ataxia telangiectasia","volume":"5","author":"M. Minegishi","year":"1991","journal-title":"Leukemia"},{"issue":"4","key":"pone.0264177.ref851","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/gcc.2870050407","article-title":"Molecular analysis of a new translocation, t(X;14)(q28;q11), in premalignancy and in leukaemia associated with ataxia telangiectasia","volume":"5","author":"J. Thick","year":"1992","journal-title":"Genes, Chromosomes & Cancer"},{"issue":"4","key":"pone.0264177.ref852","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000336241","article-title":"A Case Report of T Cell Prolymphocytic Leukemia and Kaposi Sarcoma and a Review of T Cell Prolymphocytic Leukemia","volume":"127","author":"R.N. Paul","year":"2012","journal-title":"Acta Haematologica"},{"issue":"4","key":"pone.0264177.ref853","first-page":"458","article-title":"Clonal Evolution of T-Cell Leukemia in an Ataxia Telangiectasia Patient with a T(X-14) (Q28-Q11) Translocation","volume":"49","author":"J.A. Thick","year":"1991","journal-title":"American Journal of Human Genetics"},{"issue":"9","key":"pone.0264177.ref854","first-page":"961","article-title":"Development of T-cell leukaemia in an ataxia telangiectasia patient following clonal selection in t(X;14)-containing lymphocytes","volume":"6","author":"A.M. Taylor","year":"1992","journal-title":"Leukemia"},{"issue":"4","key":"pone.0264177.ref855","first-page":"564","article-title":"A gene on chromosome Xq28 associated with T-cell prolymphocytic leukemia in two patients with ataxia telangiectasia","volume":"8","author":"J. Thick","year":"1994","journal-title":"Leukemia"},{"issue":"1","key":"pone.0264177.ref856","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0165-4608(91)90228-M","article-title":"Inversions and tandem translocations involving chromosome 14q11 and 14q32 in T-prolymphocytic leukemia and T-cell leukemias in patients with ataxia telangiectasia.","volume":"55","author":"V. Brito-Babapulle","year":"1991","journal-title":"Cancer Genetics & Cytogenetics"},{"issue":"6","key":"pone.0264177.ref857","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1055\/s-0030-1267151","article-title":"Complicated but successful treatment of a patient with ataxia telangiectasia and pre-B-acute lymphoblastic leukemia","volume":"222","author":"B. Brummel","year":"2010","journal-title":"Klinische Padiatrie"},{"issue":"SUPPL. 1","key":"pone.0264177.ref858","first-page":"S395","article-title":"Allogeneic matched sibling donor bone marrow transplantation after low-dose busilvex-fludarabine conditioning in a 3 year old boy with ataxia-telangiectasia syndrome and acute lymphoblastic leukaemia: A case report","volume":"47","author":"M. Ussowicz","year":"2012","journal-title":"Bone Marrow Transplantation"},{"key":"pone.0264177.ref859","article-title":"The Development of Chylothorax in a Child With T-Cell Lymphoblastic Lymphoma and Ataxia Telangiectasia During Induction Therapy","author":"D. \u00d6zy\u00f6r\u00fck","year":"2020","journal-title":"J Pediatr Hematol Oncol"},{"issue":"317","key":"pone.0264177.ref860","article-title":"Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study.","volume":"8","author":"H. Donath","year":"2020","journal-title":"Frontiers in Pediatrics"},{"issue":"7","key":"pone.0264177.ref861","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1111\/jdv.15568","article-title":"Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature","volume":"33","author":"S. Leclerc-Mercier","year":"2019","journal-title":"Journal of the European Academy of Dermatology and Venereology"},{"issue":"3","key":"pone.0264177.ref862","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0033-8338(03)77886-2","article-title":"Imaging study of lymphoreticular tumor development in ataxia-telangiectasia and Nijmegen breakage syndrome","volume":"45","author":"M.I. Martinez-Leon","year":"2003","journal-title":"Radiologia"},{"issue":"Supplement 3","key":"pone.0264177.ref863","first-page":"S181","article-title":"Primary cutaneous lymphoma: A report of 15 cases from single center","volume":"63","author":"N. Kurucu","year":"2016","journal-title":"Pediatric Blood and Cancer"},{"issue":"8","key":"pone.0264177.ref864","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s10875-015-0206-9","article-title":"Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988\u20132012).","volume":"35","author":"F. Mellouli","year":"2015","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref865","doi-asserted-by":"crossref","first-page":"e114","DOI":"10.1097\/MPH.0b013e31829f3496","article-title":"Epstein-barr virus-associated extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT Lymphoma) arising in the parotid gland of a child with ataxia telangiectasia","volume":"37","author":"J.A. Bennett","year":"2015","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"SUPPL. 2","key":"pone.0264177.ref866","first-page":"570","article-title":"Non-hodgkin lymphomas in children with chromosome instability syndromes","volume":"96","author":"O. Kozlova","year":"2011","journal-title":"Haematologica"},{"key":"pone.0264177.ref867","first-page":"S43","article-title":"Large B-Cell Lymphoma in a 14-Year-Old Girl with Ataxia-Telangiectasia.","volume":"65","author":"T Yoshikawa","year":"2018","journal-title":"Pediatric Blood & Cancer"},{"issue":"5","key":"pone.0264177.ref868","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1002\/pbc.21808","article-title":"Rituximab as monotherapy and in addition to reduced CHOP in children with primary immunodeficiency and non-Hodgkin lymphoma.","volume":"52","author":"S. Shabbat","year":"2009","journal-title":"Pediatric Blood & Cancer"},{"issue":"5","key":"pone.0264177.ref869","doi-asserted-by":"crossref","first-page":"425","DOI":"10.3109\/08880019809016571","article-title":"Ataxia telangiectasia associated with B-cell lymphoma: the effect of a half-dose of the drugs administered according to the acute lymphoblastic leukemia standard risk protocol.","volume":"15","author":"Y. Yamada","year":"1998","journal-title":"Pediatric Hematology & Oncology"},{"issue":"4","key":"pone.0264177.ref870","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.jpurol.2009.02.198","article-title":"Haemorrhagic cystitis and polyomavirus JC infection in ataxia telangiectasia","volume":"5","author":"M. Christmann","year":"2009","journal-title":"Journal of pediatric urology"},{"key":"pone.0264177.ref871","first-page":"S83","article-title":"Mature B-Cell Lymphoma in a Pediatric Patient with Ataxia-Telangiectasia: An Uncertain Frontier","volume":"63","author":"M. Nelson","year":"2016","journal-title":"Pediatric Blood & Cancer"},{"issue":"12","key":"pone.0264177.ref872","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.3324\/haematol.2016.147116","article-title":"Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents","volume":"101","author":"A. Attarbaschi","year":"2016","journal-title":"Haematologica"},{"issue":"2","key":"pone.0264177.ref873","first-page":"S374","article-title":"Enigmas left in diagnosis: Chronic epstein barr virus lymphoproliferation or lymphoma","volume":"34","author":"R. Sherkat","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"2","key":"pone.0264177.ref874","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1046\/j.1365-2141.2003.04041_4.x","article-title":"Modified chop-chemotherapy plus rituximab for diffuse large b-cell lymphoma complicating ataxia-telangiectasia","volume":"120","author":"G. Rossi","year":"2003","journal-title":"British Journal of Haematology"},{"issue":"10","key":"pone.0264177.ref875","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1002\/pbc.25565","article-title":"Non-Hodgkin lymphoma in children with an associated inherited condition: A retrospective analysis of the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP).","volume":"62","author":"M. Arico","year":"2015","journal-title":"Pediatric Blood & Cancer"},{"key":"pone.0264177.ref876","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.canep.2018.05.006","article-title":"Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population","volume":"55","author":"W. Jastaniah","year":"2018","journal-title":"Cancer Epidemiology"},{"issue":"6","key":"pone.0264177.ref877","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1097\/MPH.0b013e3182804d59","article-title":"Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab","volume":"35","author":"S. Machida","year":"2013","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"3","key":"pone.0264177.ref878","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/j.1365-2141.2007.06796.x","article-title":"Clinical characteristics and treatment outcome of infants with non-Hodgkin lymphoma","volume":"139","author":"G. Mann","year":"2007","journal-title":"British Journal of Haematology"},{"issue":"9","key":"pone.0264177.ref879","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1038\/bmt.2016.93","article-title":"Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.","volume":"51","author":"R. Beier","year":"2016","journal-title":"Bone Marrow Transplantation"},{"issue":"10","key":"pone.0264177.ref880","first-page":"2929","article-title":"Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain","volume":"48","author":"E.C. Pippard","year":"1988","journal-title":"Cancer Research"},{"issue":"1","key":"pone.0264177.ref881","first-page":"54","article-title":"Case of Ataxia-teleangiectasia (Louis Bar Syndrome) in 5-years Old Girl with Non-Hodgkin Lymphoma","author":"M. Koleva","year":"2017","journal-title":"Pediatriya"},{"issue":"6","key":"pone.0264177.ref882","doi-asserted-by":"crossref","first-page":"544","DOI":"10.3109\/08880018.2013.792893","article-title":"Characteristics of children with non-hodgkin lymphoma associated with primary immune deficiency diseases: descriptions of five patients.","volume":"30","author":"S. Emir","year":"2013","journal-title":"Pediatric Hematology & Oncology"},{"issue":"5","key":"pone.0264177.ref883","first-page":"e291","article-title":"Complete heart block and asystole in a child with ataxia-telangiectasia","volume":"115","author":"D.P. Arias","year":"2017","journal-title":"Archivos Argentinos de Pediatria"},{"key":"pone.0264177.ref884","first-page":"5","article-title":"Non-Hodgkin lymphoma- single center experience","volume":"182","author":"E Ataseven","year":"2018","journal-title":"British Journal of Haematology"},{"issue":"7","key":"pone.0264177.ref885","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1097\/00043426-200407000-00009","article-title":", Osteosarcoma as a second tumor after treatment for primary non-Hodgkin\u2019s lymphoma in a child with ataxia-telangiectasia: presentation of a case and review of possible pathogenetic mechanisms.","volume":"26","author":"A Makis","year":"2004","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"key":"pone.0264177.ref886","first-page":"770","article-title":"Polymorphism of pulmonary manifestations in children with Louis bar syndrome","volume":"73","author":"S. Sciuca","year":"2018","journal-title":"Allergy"},{"issue":"1","key":"pone.0264177.ref887","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1007\/s10875-012-9763-3","article-title":"The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey\u2014two centers study","volume":"33","author":"S.S. Kilic","year":"2013","journal-title":"Journal of Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref888","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1002\/(SICI)1096-911X(199912)33:6<536::AID-MPO3>3.0.CO;2-Z","article-title":"Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: Analysis of 19 patients from the BFM trials","volume":"33","author":"K. Seidemann","year":"1999","journal-title":"Medical and Pediatric Oncology"},{"issue":"SUPPL. 3","key":"pone.0264177.ref889","first-page":"83","article-title":"Unusual non-hodgkin lymphoma subtypes in children with primary immunodeficiency","volume":"60","author":"A. Uner","year":"2013","journal-title":"Pediatric Blood and Cancer"},{"issue":"1","key":"pone.0264177.ref890","doi-asserted-by":"crossref","first-page":"44","DOI":"10.3109\/15360288.2015.1134748","article-title":"Medical Management of Pediatric Malignant Bowel Obstruction in a Patient with Burkitt\u2019s Lymphoma and Ataxia Telangiectasia Using Continuous Ambulatory Drug Delivery System.","volume":"30","author":"A. Ghoshal","year":"2016","journal-title":"Journal of Pain & Palliative Care Pharmacotherapy"},{"issue":"2","key":"pone.0264177.ref891","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/pbc.24696","article-title":"Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies.","volume":"61","author":"J.T. Sandlund","year":"2014","journal-title":"Pediatric Blood & Cancer"},{"issue":"SUPPL 4","key":"pone.0264177.ref892","article-title":"Childhood cancers and heredity: A single center experience.","volume":"67","author":"B. Baysal","year":"2020","journal-title":"Pediatric Blood and Cancer. Conference"},{"issue":"3","key":"pone.0264177.ref893","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/S0090-4295(97)00244-6","article-title":"An unusual case of urinary incontinence, ataxia-telangiectasia, and metastatic dysgerminoma: case report and review of the literature","volume":"50","author":"C.R. deVries","year":"1997","journal-title":"Urology"},{"issue":"4","key":"pone.0264177.ref894","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1097\/MPH.0b013e31828fccdf","article-title":"Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse","volume":"35","author":"A. Perez-Villena","year":"2013","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"issue":"6","key":"pone.0264177.ref895","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/j.ejpn.2018.07.006","article-title":"Secondary enuresis and urological manifestations in children with ataxia telangiectasia","volume":"22","author":"A. Nissenkorn","year":"2018","journal-title":"European Journal of Paediatric Neurology"},{"issue":"3","key":"pone.0264177.ref896","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/S0022-3476(70)80011-7","article-title":"Ataxia telangiectasia with granulocytopenia","volume":"77","author":"R.D. Feigin","year":"1970","journal-title":"Journal of Pediatrics"},{"issue":"6","key":"pone.0264177.ref897","doi-asserted-by":"crossref","first-page":"AB209","DOI":"10.1016\/j.jaad.2020.06.926","article-title":"18303 Ataxia telangiectasia and melanoma: The role of dermatology in ataxia telangiectasia","volume":"83","author":"S. Oska","year":"2020","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"3","key":"pone.0264177.ref898","article-title":"Ataxia telangiectasia and follicular cancer- to radiate or not","volume":"34","author":"M.K. Eswaran","year":"2013","journal-title":"Endocrine Reviews"},{"issue":"7868","key":"pone.0264177.ref899","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1016\/S0140-6736(74)91052-6","article-title":"Letter: A.F.P. and ataxia-telangiectasia","volume":"1","author":"M.J. Simons","year":"1974","journal-title":"Lancet"},{"issue":"7787","key":"pone.0264177.ref900","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1016\/S0140-6736(72)92717-1","article-title":"Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia","volume":"2","author":"T.A. Waldmann","year":"1972","journal-title":"Lancet"},{"issue":"Pt 6","key":"pone.0264177.ref901","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1093\/brain\/awu092","article-title":"Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives","volume":"137","author":"N.D. Volkow","year":"2014","journal-title":"Brain"},{"issue":"1","key":"pone.0264177.ref902","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1046\/j.1365-2249.2002.01830.x","article-title":"Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia.","volume":"129","author":"R. Schubert","year":"2002","journal-title":"Clinical & Experimental Immunology"},{"issue":"6","key":"pone.0264177.ref903","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1067\/mpd.2002.123879","article-title":"Early diagnosis of ataxia-telangiectasia using radiosensitivity testing","volume":"140","author":"X. Sun","year":"2002","journal-title":"Journal of Pediatrics"},{"issue":"1","key":"pone.0264177.ref904","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-009-0196-y","article-title":"Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management","volume":"11","author":"M. Anheim","year":"2010","journal-title":"Neurogenetics"},{"issue":"3","key":"pone.0264177.ref905","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1111\/j.1365-2249.2005.02782.x","article-title":"Growth factor deficiency in patients with ataxia telangiectasia.","volume":"140","author":"R. Schubert","year":"2005","journal-title":"Clinical & Experimental Immunology"},{"issue":"8572","key":"pone.0264177.ref906","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1016\/S0140-6736(87)91288-8","article-title":"Screening test for ataxia telangiectasia","volume":"2","author":"D. Schindler","year":"1987","journal-title":"Lancet"},{"issue":"3","key":"pone.0264177.ref907","first-page":"119","article-title":"Twenty years of investigations into primary immunodeficiency diseases in the Department of Immunology of the Children\u2019s Memorial Health Institute, Warsaw","volume":"25","author":"E. Bernatowska","year":"2000","journal-title":"Central European Journal of Immunology"},{"key":"pone.0264177.ref908","first-page":"95","article-title":"Diabetes and Ataxia Telangiectasia","volume":"40","author":"K. Welsh","year":"2018","journal-title":"Journal of Pediatric Nursing-Nursing Care of Children & Families"},{"key":"pone.0264177.ref909","first-page":"S29","article-title":"Hepatic Steatosis in Patients with Ataxia-Telangiectasia: Association with Biomarkers Related to Glucose Metabolism","volume":"35","author":"M. Rafael","year":"2015","journal-title":"Journal of Clinical Immunology"},{"issue":"6","key":"pone.0264177.ref910","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1097\/00007611-199606000-00013","article-title":"Insulin-resistant diabetes mellitus in a black woman with ataxia-telangiectasia","volume":"89","author":"L.S. Blevins","year":"1996","journal-title":"Southern Medical Journal"},{"issue":"25","key":"pone.0264177.ref911","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1056\/NEJM197006182822503","article-title":"An unusual form of diabetes mellitus in ataxia telangiectasia","volume":"282","author":"D.S. Schalch","year":"1970","journal-title":"New England Journal of Medicine"},{"issue":"5","key":"pone.0264177.ref912","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.aller.2019.03.004","article-title":"Assessment of vitamin D status in common variable immunodeficiency or ataxia-telangiectasia patients.","volume":"47","author":"J.R.S. Cruz","year":"2019","journal-title":"Allergol Immunopathol (Madr)"},{"issue":"Supplement 1","key":"pone.0264177.ref913","first-page":"S93","article-title":"Linear growth and endocrine function in children with ataxia telangiectasia","volume":"18","author":"M. Ehlayel","year":"2014","journal-title":"Indian Journal of Endocrinology and Metabolism"},{"issue":"Supplement 1","key":"pone.0264177.ref914","first-page":"A158","article-title":"Low Vitamin D levels in children with ataxiatelangiectasia","volume":"102","author":"A.P. Prayle","year":"2017","journal-title":"Archives of Disease in Childhood"},{"issue":"2","key":"pone.0264177.ref915","first-page":"355","article-title":"Nutritional condition related to vitamin D in patients with primary immunodeficiency","volume":"32","author":"R. Da Silva","year":"2012","journal-title":"Journal of Clinical Immunology"},{"issue":"4","key":"pone.0264177.ref916","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1097\/MPG.0000000000001036","article-title":"Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.","volume":"62","author":"B. Weiss","year":"2016","journal-title":"Journal of Pediatric Gastroenterology & Nutrition"},{"issue":"6","key":"pone.0264177.ref917","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1080\/21678707.2020.1780117","article-title":"Agreement of cardiovascular risk in ataxia-telangiectasia mutated heterozygotes and their children with Ataxia-telangiectasia.","volume":"8","author":"T.L.N. Barreto","year":"2020","journal-title":"Expert Opinion on Orphan Drugs"},{"issue":"2","key":"pone.0264177.ref918","first-page":"121","article-title":"ATM gene mutations in Chinese patients with ataxia-telangiectasia","volume":"22","author":"H. Jiang","year":"2005","journal-title":"Chinese Journal of Medical Genetics"},{"issue":"5","key":"pone.0264177.ref919","first-page":"485","article-title":"Contribution to the Louis-Bar syndrome (ataxia telangiectasia) (author\u2019s transl)","volume":"122","author":"A. Tennstedt","year":"1978","journal-title":"Zentralblatt fur Allgemeine Pathologie und Pathologische Anatomie"},{"issue":"SUPPL. 2","key":"pone.0264177.ref920","first-page":"5","article-title":"Cutaneous manifestations of primary immunodeficiency diseases in Libyan children","volume":"12","author":"S.S. Elfaituri","year":"2014","journal-title":"JDDG\u2014Journal of the German Society of Dermatology"},{"issue":"5","key":"pone.0264177.ref921","first-page":"273","article-title":"Overall progeroid aspect of the Louis-Bar syndrome: pigmentary and keratotic phenomena","volume":"30","author":"G.W. Korting","year":"1979","journal-title":"Hautarzt"},{"key":"pone.0264177.ref922","article-title":"Proteomic characterization of cerebrospinal fluid from ataxia- telangiectasia (A-T) patients using a LC\/MS-based label-free protein quantification technology.","author":"M. Dzieciatkowska","year":"2011","journal-title":"International Journal of Proteomics"},{"issue":"1","key":"pone.0264177.ref923","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1203\/00006450-197711010-00022","article-title":"Transfer-Factor Therapy in Ataxia-Telangiectasia","volume":"11","author":"A.I. Berkel","year":"1977","journal-title":"Pediatric Research"},{"issue":"1","key":"pone.0264177.ref924","first-page":"75","article-title":"Conjunctival telangiectasia in a patient with ataxia telangiectasia: A case report.","volume":"42","author":"O.P. Akarsu","year":"2012","journal-title":"Turk Oftalmoloiji Dergisi"},{"issue":"1","key":"pone.0264177.ref925","first-page":"56","article-title":"Telomerase Dysfunction in the Tumorigenesis of Genetic Disorders","volume":"10","author":"M.M.F. Aql","year":"2021","journal-title":"International Journal of Molecular and Cellular Medicine"},{"issue":"Supplement 2","key":"pone.0264177.ref926","first-page":"S13","article-title":"Following and diagnostic outcome of multiple cafe-au-lait macules of chil.","volume":"35","author":"D. Marie","year":"2018","journal-title":"Pediatric Dermatology"},{"key":"pone.0264177.ref927","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1177\/003591576505800221","article-title":"Ataxia Telangiectasia with Unusual Features","volume":"58","author":"E.M. Brett","year":"1965","journal-title":"Proceedings of the Royal Society of Medicine"},{"issue":"1","key":"pone.0264177.ref928","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1093\/cid\/ciw675","article-title":"Cutaneous and visceral chronic granulomatous disease triggered by a rubella virus vaccine strain in children with primary immunodeficiencies","volume":"64","author":"B. Neven","year":"2017","journal-title":"Clinical Infectious Diseases"},{"issue":"3","key":"pone.0264177.ref929","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/pai.13020","article-title":"Ataxia-telangiectasia: A review of clinical features and molecular pathology","volume":"30","author":"P. Amirifar","year":"2019","journal-title":"Pediatric Allergy and Immunology"},{"issue":"6","key":"pone.0264177.ref930","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/S0022-3476(05)83043-4","article-title":"Cutaneous granulomatous lesions in patients with ataxia-telangiectasia","volume":"119","author":"A.S. Paller","year":"1991","journal-title":"Journal of Pediatrics"},{"key":"pone.0264177.ref931","first-page":"123","article-title":"Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia","volume":"159","author":"A. Mitra","year":"2008","journal-title":"British Journal of Dermatology"},{"issue":"6","key":"pone.0264177.ref932","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1007\/s10875-018-0534-7","article-title":"Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry","volume":"38","author":"J. Leung","year":"2018","journal-title":"Journal of Clinical Immunology"},{"issue":"3","key":"pone.0264177.ref933","first-page":"402","article-title":"Rubella virus associated cutaneous granulomatous disease: A unique complication in patients with dna repair disorders","volume":"38","author":"D. Buchbinder","year":"2018","journal-title":"Journal of Clinical Immunology"},{"key":"pone.0264177.ref934","article-title":"Spectrum of Neurocutaneous Syndromes in Children in Neurology Practice","volume":"22","author":"J.S. Goraya","year":"2017","journal-title":"Journal of Pediatric Neurology."},{"issue":"SUPPL 1","key":"pone.0264177.ref935","first-page":"45","article-title":"Rubella vaccine induced cutaneous granulomas in a patient with ataxia telangiectasia","volume":"38","author":"V. Davila","year":"2021","journal-title":"Pediatric Dermatology"},{"issue":"1","key":"pone.0264177.ref936","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1080\/13816810802415256","article-title":"Uncommon associations with ataxia-telangiectasia: vitiligo and optic disc drusen","volume":"30","author":"A. Sari","year":"2009","journal-title":"Ophthalmic Genetics"},{"key":"pone.0264177.ref937","article-title":"Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children.","volume":"10","author":"N.G. Dhouib","year":"2018","journal-title":"Mediterranean Journal of Hematology and Infectious Diseases"},{"issue":"Supplement 1","key":"pone.0264177.ref938","first-page":"63","article-title":"Scoliosis in children with Ataxia-Telangiectasia","volume":"59","author":"M.T. Ong","year":"2017","journal-title":"Developmental Medicine and Child Neurology"},{"issue":"147","key":"pone.0264177.ref939","first-page":"4","article-title":"Ataxia telangiectasia. On 4 personal cases","volume":"31","author":"M. Itri","year":"1995","journal-title":"Pediatre"},{"issue":"2","key":"pone.0264177.ref940","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0022-3476(00)70106-5","article-title":"Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia","volume":"136","author":"M.A. Lefton-Greif","year":"2000","journal-title":"Journal of Pediatrics"},{"issue":"3","key":"pone.0264177.ref941","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/0016-5085(78)90302-5","article-title":"Longitudinal esophageal bands associated with esophageal aperistalsis: speculations on pathogenesis","volume":"74","author":"A.E. Stillman","year":"1978","journal-title":"Gastroenterology"},{"issue":"2","key":"pone.0264177.ref942","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1080\/02724936.1994.11747702","article-title":"Aetiology of chronic diarrhoea in children: experience at King Khalid University Hospital, Riyadh, Saudi Arabia","volume":"14","author":"A.M. Abdullah","year":"1994","journal-title":"Annals of Tropical Paediatrics"},{"issue":"8","key":"pone.0264177.ref943","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1111\/jpc.12828","article-title":"Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention.","volume":"51","author":"L.J. Ross","year":"2015","journal-title":"Journal of Paediatrics & Child Health"},{"issue":"12","key":"pone.0264177.ref944","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1136\/archdischild-2015-310373","article-title":"Growth and nutrition in children with ataxia telangiectasia","volume":"101","author":"E. Stewart","year":"2016","journal-title":"Archives of Disease in Childhood"},{"issue":"2","key":"pone.0264177.ref945","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1469-8749.2010.03823.x","article-title":"Aetiology of intellectual disability in paediatric outpatients in Northern India","volume":"53","author":"P. Jauhari","year":"2011","journal-title":"Developmental Medicine and Child Neurology"},{"issue":"34","key":"pone.0264177.ref946","first-page":"2183","article-title":"Ataxia telangiectasia. Description of a case with multiple cerebral hemorrhages and liver cirrhosis","volume":"73","author":"M. Casaril","year":"1982","journal-title":"Minerva Medica"},{"key":"pone.0264177.ref947","first-page":"1","article-title":"Ataxia-telangiectasia: an overview","volume":"19","author":"E. Boder","year":"1985","journal-title":"Kroc Foundation Series"},{"issue":"3","key":"pone.0264177.ref948","first-page":"361","article-title":"Basal ganglia lesion in two autopsy cases of ataxia telangiectasia","volume":"32","author":"R. Miyata","year":"2012","journal-title":"Neuropathology"},{"issue":"4","key":"pone.0264177.ref949","first-page":"415","article-title":"Common founder mutations among Hispanic patients with ataxia-telangiectasia (A-T)","volume":"69","author":"M. Mitui","year":"2001","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"pone.0264177.ref950","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1111\/j.1440-1789.2011.01210.x","article-title":"Heterotopic Purkinje cells in ataxia-telangiectasia","volume":"32","author":"A.R. Bottini","year":"2012","journal-title":"Neuropathology"},{"issue":"7857","key":"pone.0264177.ref951","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/S0140-6736(74)92747-0","article-title":"Letter: Chromosomally marked lymphocyte clones in ataxia-telangiectasia","volume":"1","author":"F. Hecht","year":"1974","journal-title":"Lancet"},{"issue":"5","key":"pone.0264177.ref952","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/pd.874","article-title":"Identification of two mutations for ataxia telangiectasia among the Druze community","volume":"24","author":"F. Fares","year":"2004","journal-title":"Prenatal Diagnosis"},{"issue":"2","key":"pone.0264177.ref953","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1212\/WNL.34.2.187","article-title":"Neurochemical abnormalities in a patient with ataxia-telangiectasia","volume":"34","author":"T.L. Perry","year":"1984","journal-title":"Neurology"},{"issue":"4\u20135","key":"pone.0264177.ref954","first-page":"395","article-title":"Unusual combination of immune and endocrine deficiencies. A possible case of early-onset Louis-Bar syndrome","volume":"31","author":"F. Severi","year":"1976","journal-title":"Helvetica Paediatrica Acta"},{"issue":"5","key":"pone.0264177.ref955","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1002\/pbc.25883","article-title":"Comment on: Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab.","volume":"63","author":"S. Zielen","year":"2016","journal-title":"Pediatric Blood & Cancer"},{"key":"pone.0264177.ref956","article-title":"Pulmonary infections in primary immunodeficiencies to children","volume":"73","author":"R Selevestru","year":"2018","journal-title":"Allergy"},{"issue":"4","key":"pone.0264177.ref957","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1111\/dmcn.12081","article-title":"The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada.","volume":"55","author":"M.S. Salman","year":"2013","journal-title":"Developmental Medicine & Child Neurology"},{"issue":"2","key":"pone.0264177.ref958","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1111\/cei.12105","article-title":"The German national registry for primary immunodeficiencies (PID).","volume":"173","author":"B. Gathmann","year":"2013","journal-title":"Clinical and Experimental Immunology"},{"issue":"4","key":"pone.0264177.ref959","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/ppul.22817","article-title":"Infections of the respiratory system in patients with ataxia-telangiectasia","volume":"49","author":"S.A. Schroeder","year":"2014","journal-title":"Pediatric Pulmonology"},{"issue":"7","key":"pone.0264177.ref960","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1136\/adc.2006.094268","article-title":"Survival probability in ataxia telangiectasia","volume":"91","author":"T.O. Crawford","year":"2006","journal-title":"Archives of Disease in Childhood"},{"issue":"458","key":"pone.0264177.ref961","article-title":"Progressive Liver Disease in Patients With Ataxia Telangiectasia.","volume":"7","author":"H. Donath","year":"2019","journal-title":"Frontiers in Pediatrics"},{"issue":"6","key":"pone.0264177.ref962","first-page":"732","article-title":"Unusual Clinical Presentation and Hemophagocytosis of Ataxia-Telangiectasia in Two Siblings with a Rare Mutation","volume":"34","author":"A. Yildiran","year":"2014","journal-title":"Journal of Clinical Immunology"},{"issue":"1","key":"pone.0264177.ref963","first-page":"11","article-title":"Primary immune disorders in children and their diagnosis","volume":"16","author":"K. Saha","year":"1984","journal-title":"Journal of Communicable Diseases"},{"issue":"6","key":"pone.0264177.ref964","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1093\/ajcp\/54.6.790","article-title":"Monoclonal hypergammaglobulinemia of the gamma M type in a nine-year-old girl with ataxia-telangiectasia","volume":"54","author":"L.P. Cawley","year":"1970","journal-title":"American Journal of Clinical Pathology"},{"issue":"3","key":"pone.0264177.ref965","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1097\/00000441-197611000-00014","article-title":"Hageman factor deficiency in ataxia telangiectasia","volume":"272","author":"G.K. Kumar","year":"1976","journal-title":"American Journal of the Medical Sciences"},{"issue":"SUPPL. 96","key":"pone.0264177.ref966","first-page":"274","article-title":"Growth hormone deficiency and immune status in patients with ataxia telangiectasia","volume":"67","author":"S. Vos","year":"2012","journal-title":"Allergy: European Journal of Allergy and Clinical Immunology"},{"issue":"5","key":"pone.0264177.ref967","first-page":"S76","article-title":"Cytogenetic studies in chromosome instability syndromes.","volume":"20","author":"M.B. Sute","year":"2014","journal-title":"Indian Journal of Human Genetics"},{"issue":"8","key":"pone.0264177.ref968","doi-asserted-by":"crossref","first-page":"e547","DOI":"10.1097\/MPH.0000000000001134","article-title":"A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome","volume":"40","author":"M.H. Celiksoy","year":"2018","journal-title":"Journal of Pediatric Hematology Oncology"},{"issue":"1","key":"pone.0264177.ref969","first-page":"27","article-title":"Ataxia telangiectasia with thrombasthenia, platelet dysfunction, and a chromosomal translocation. A monoclonal defect?","volume":"3","author":"Y.S. Arkel","year":"1981","journal-title":"American Journal of Pediatric Hematology\/Oncology"},{"issue":"SUPPL 1","key":"pone.0264177.ref970","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1136\/annrheumdis-2021-eular.3526","article-title":"Rheumatologic diseases as presentations of primary immunodeficiency diseases","volume":"80","author":"S. Kudryashov","year":"2021","journal-title":"Annals of the Rheumatic Diseases"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0264177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,20]],"date-time":"2024-09-20T05:35:33Z","timestamp":1726810533000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0264177"}},"subtitle":[],"editor":[{"given":"Tai-Heng","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2022,3,15]]},"references-count":970,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3,15]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0264177","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,15]]}}}