{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T05:23:47Z","timestamp":1776835427169,"version":"3.51.2"},"reference-count":45,"publisher":"Frontiers Media SA","funder":[{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["R01AI067946"],"award-info":[{"award-number":["R01AI067946"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["R01 AI120989"],"award-info":[{"award-number":["R01 AI120989"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1HG006542"],"award-info":[{"award-number":["UM1HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS058529"],"award-info":[{"award-number":["R01NS058529"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","award":["Translational Research Program Grant"],"award-info":[{"award-number":["Translational Research Program Grant"]}],"id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2017.00576","type":"journal-article","created":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T03:57:36Z","timestamp":1495771056000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":22,"title":["Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168"],"prefix":"10.3389","volume":"8","author":[{"given":"Ivan K.","family":"Chinn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert P.","family":"Sanders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asbj\u00f8rg","family":"Stray-Pedersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep H.","family":"Coban-Akdemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vy Hong-Diep","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harjit","family":"Dadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaim M.","family":"Roifman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Troy","family":"Quigg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordan S.","family":"Orange","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. Celine","family":"Hanson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2017,5,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1016\/j.jaci.2016.05.042","article-title":"Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders","volume":"139","author":"Stray-Pedersen","year":"2017","journal-title":"J Allergy ClinImmunol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/j.jaci.2004.06.001","article-title":"Functional and molecular evaluation of lymphocytes","volume":"114","author":"Fleisher","year":"2004","journal-title":"J Allergy ClinImmunol"},{"key":"B3","first-page":"2544","article-title":"Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay","volume":"54","author":"Huo","year":"1994","journal-title":"Cancer Res"},{"key":"B4","doi-asserted-by":"publisher","first-page":"724","DOI":"10.1067\/mpd.2002.123879","article-title":"Early diagnosis of ataxia-telangiectasia using radiosensitivity testing","volume":"140","author":"Sun","year":"2002","journal-title":"J Pediatr"},{"key":"B5","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1016\/0092-8674(94)90368-9","article-title":"Defective T cell receptor signaling and CD8+ thymic selection in humans lacking Zap-70 kinase","volume":"76","author":"Arpaia","year":"1994","journal-title":"Cell"},{"key":"B6","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/s00431-008-0718-x","article-title":"Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency","volume":"168","author":"Turul","year":"2008","journal-title":"Eur J Pediatr"},{"key":"B7","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1006\/clin.1997.4365","article-title":"Phenotypic features of selective T cell deficiency characterized by absence of CD8+T lymphocytes and undetectable mRNA for ZAP-70 kinase","volume":"84","author":"Mazer","year":"1997","journal-title":"Clin Immunol Immunopathol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.iac.2015.07.002","article-title":"Severe combined immunodeficiency disorders","volume":"35","author":"Chinn","year":"2015","journal-title":"Immunol Allergy Clin North Am"},{"key":"B9","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1586\/eci.10.93","article-title":"DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome","volume":"7","author":"Blundred","year":"2011","journal-title":"Expert Rev Clin Immunol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/s12026-007-0018-y","article-title":"Immunodeficiency, radiosensitivity, and the XCIND syndrome","volume":"38","author":"Gatti","year":"2007","journal-title":"Immunol Res"},{"key":"B11","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1097\/ACI.0b013e328332be17","article-title":"DNA double strand break repair defects, primary immunodeficiency disorders, and \u2018radiosensitivity\u2019","volume":"9","author":"Nahas","year":"2009","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1007\/s12185-012-1240-5","article-title":"XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility","volume":"97","author":"Mizutani","year":"2013","journal-title":"Int J Hematol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1186\/gm461","article-title":"Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy","volume":"5","author":"Lupski","year":"2013","journal-title":"Genome Med"},{"key":"B14","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res"},{"key":"B15","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"key":"B16","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1016\/j.jaci.2016.08.003","article-title":"Exome and genome sequencing for inborn errors of immunity","volume":"138","author":"Meyts","year":"2016","journal-title":"J Allergy ClinImmunol"},{"key":"B17","doi-asserted-by":"publisher","first-page":"1226.e","DOI":"10.1016\/j.jaci.2010.07.029","article-title":"Characterization of \u03b6-associated protein, 70 kd (ZAP70)-deficient human lymphocytes","volume":"126","author":"Roifman","year":"2010","journal-title":"J Allergy ClinImmunol"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1821","DOI":"10.1056\/NEJMoa031178","article-title":"Effect of CD3\u03b4 deficiency on maturation of \u03b1\/\u03b2 and \u03b3\/\u03b4 T-cell lineages in severe combined immunodeficiency","volume":"349","author":"Dadi","year":"2003","journal-title":"N Engl J Med"},{"key":"B19","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1101\/gr.122044.111","article-title":"Genetic variation in radiation-induced cell death","volume":"22","author":"Smirnov","year":"2012","journal-title":"Genome Res"},{"key":"B20","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/j.dnarep.2014.02.001","article-title":"Genetic factors in individual radiation sensitivity","volume":"16","author":"Hornhardt","year":"2014","journal-title":"DNA Repair"},{"key":"B21","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1007\/s10495-014-1056-2","article-title":"Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism","volume":"20","author":"Fuentes-Raspall","year":"2015","journal-title":"Apoptosis"},{"key":"B22","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1016\/j.radonc.2016.02.034","article-title":"Gender bias in individual radiosensitivity and the association with genetic polymorphic variations","volume":"119","author":"Alsbeih","year":"2016","journal-title":"Radiother Oncol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"1599","DOI":"10.1126\/science.8202713","article-title":"ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency","volume":"264","author":"Chan","year":"1994","journal-title":"Science"},{"key":"B24","doi-asserted-by":"publisher","first-page":"1596","DOI":"10.1126\/science.8202712","article-title":"Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase","volume":"264","author":"Elder","year":"1994","journal-title":"Science"},{"key":"B25","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1016\/0092-8674(92)90598-7","article-title":"ZAP-70: a 70 kd protein-tyrosine kinase that associates with the TCR zeta chain","volume":"71","author":"Chan","year":"1992","journal-title":"Cell"},{"key":"B26","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1007\/s00281-010-0196-x","article-title":"ZAP70: a master regulator of adaptive immunity","volume":"32","author":"Fischer","year":"2010","journal-title":"Semin Immunopathol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"16910","DOI":"10.1073\/pnas.0708408104","article-title":"RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling","volume":"104","author":"Stewart","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B28","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1016\/j.cell.2008.12.042","article-title":"The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage","volume":"136","author":"Stewart","year":"2009","journal-title":"Cell"},{"key":"B29","doi-asserted-by":"publisher","first-page":"R331","DOI":"10.1016\/j.cub.2009.03.024","article-title":"DNA repair: a riddle at a double-strand break","volume":"19","author":"Hiom","year":"2009","journal-title":"Curr Biol"},{"key":"B30","first-page":"1993","article-title":"ZAP70-related severe combined immunodeficiency","volume-title":"GeneReviews","author":"Rosenberg","year":"2014"},{"key":"B31","doi-asserted-by":"publisher","first-page":"1966","DOI":"10.1002\/eji.200939385","article-title":"Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity","volume":"39","author":"Picard","year":"2009","journal-title":"Eur J Immunol"},{"key":"B32","doi-asserted-by":"publisher","first-page":"1500","DOI":"10.1038\/cdd.2011.18","article-title":"Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia","volume":"18","author":"Devgan","year":"2011","journal-title":"Cell Death Differ"},{"key":"B33","doi-asserted-by":"publisher","first-page":"e1001381","DOI":"10.1371\/journal.pgen.1001381","article-title":"Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the riddle syndrome","volume":"7","author":"Bohgaki","year":"2011","journal-title":"PLoS Genet"},{"key":"B34","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S1383-5718(03)00171-2","article-title":"Assessment of individual sensitivity to ionizing radiation and DNA repair efficiency in a healthy population","volume":"541","author":"Marcon","year":"2003","journal-title":"Mutat Res"},{"key":"B35","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1016\/j.icrp.2012.06.030","article-title":"Genetic predisposition to radiation-related cancer and potential implications for risk assessment","volume":"41","author":"Sigurdson","year":"2012","journal-title":"Ann ICRP"},{"key":"B36","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1097\/HP.0b013e3181b08eee","article-title":"Variations in radiosensitivity among individuals: a potential impact on risk assessment?","volume":"97","author":"Kato","year":"2009","journal-title":"Health Phys"},{"key":"B37","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1002\/em.10058","article-title":"Genetic regulation of ionizing radiation sensitivity and breast cancer risk","volume":"39","author":"Hu","year":"2002","journal-title":"Environ Mol Mutagen"},{"key":"B38","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1002\/iid3.4","article-title":"Human pre-B cell receptor signal transduction: evidence for distinct roles of PI3kinase and MAP-kinase signalling pathways","volume":"1","author":"Anbazhagan","year":"2013","journal-title":"Immun Inflamm Dis"},{"key":"B39","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/s12865-014-0028-1","article-title":"Memory B cell subsets and plasmablasts are lower in early than in long-standing rheumatoid arthritis","volume":"15","author":"Fedele","year":"2014","journal-title":"BMC Immunol"},{"key":"B40","doi-asserted-by":"publisher","first-page":"901","DOI":"10.2119\/molmed.2011.00034","article-title":"B-cell subsets in the joint compartments of seropositive and seronegative rheumatoid arthritis (RA) and no-RA arthritides express memory markers and ZAP70 and characterize the aggregate pattern irrespectively of the autoantibody status","volume":"17","author":"Michelutti","year":"2011","journal-title":"Mol Med"},{"key":"B41","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1016\/j.jaci.2012.09.020","article-title":"Emergency treatment for \u03b6 chain-associated protein of 70 kDa (ZAP70) deficiency","volume":"131","author":"Kim","year":"2013","journal-title":"J Allergy ClinImmunol"},{"key":"B42","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of Mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"key":"B43","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1001\/jama.2014.14601","article-title":"Molecular findings among patients referred for clinical whole-exome sequencing","volume":"312","author":"Yang","year":"2014","journal-title":"JAMA"},{"key":"B44","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1038\/gim.2015.142","article-title":"Molecular diagnostic experience of whole-exome sequencing in adult patients","volume":"18","author":"Posey","year":"2016","journal-title":"Genet Med"},{"key":"B45","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","volume":"376","author":"Posey","year":"2017","journal-title":"N Engl J Med"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fimmu.2017.00576\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T03:57:40Z","timestamp":1495771060000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fimmu.2017.00576\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,26]]},"references-count":45,"alternative-id":["10.3389\/fimmu.2017.00576"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2017.00576","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,5,26]]},"article-number":"576"}}