{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T23:12:56Z","timestamp":1793661176807,"version":"4.5.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012033","name":"Japanese Dermatological Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012033","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011731","name":"Action for A-T","doi-asserted-by":"publisher","award":["WAKZ 4519"],"award-info":[{"award-number":["WAKZ 4519"]}],"id":[{"id":"10.13039\/100011731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005039","name":"Leids Universitair Medisch Centrum","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005039","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.jaci.2023.12.029","type":"journal-article","created":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T11:39:07Z","timestamp":1706269147000},"page":"1392-1405","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia"],"prefix":"10.1016","volume":"153","author":[{"given":"Sanami","family":"Takada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas J.","family":"Weitering","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke J.H.","family":"van Os","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Likun","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Pico-Knijnenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas B.","family":"Kuipers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hailiang","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Salzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8l A.A.P.","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corry M.R.","family":"Weemaes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Pan-Hammarstrom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1510-3104","authenticated-orcid":false,"given":"Mirjam","family":"van der Burg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2023.12.029_bib1","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1542\/peds.21.4.526","article-title":"Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection","volume":"21","author":"Boder","year":"1958","journal-title":"Pediatrics"},{"issue":"7344","key":"10.1016\/j.jaci.2023.12.029_bib2","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":"Peterson","year":"1964","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2023.12.029_bib3","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: a review","volume":"11","author":"Rothblum-Oviatt","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jaci.2023.12.029_bib4","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/WNL.0b013e3181af33bd","article-title":"Clinical spectrum of ataxia-telangiectasia in adulthood","volume":"73","author":"Verhagen","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.jaci.2023.12.029_bib5","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":"van Os","year":"2017","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib6","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":"Verhagen","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jaci.2023.12.029_bib7","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1016\/j.jaci.2013.01.053","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":"Driessen","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib8","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":"Nowak-Wegrzyn","year":"2004","journal-title":"J Pediatr"},{"key":"10.1016\/j.jaci.2023.12.029_bib9","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":"Noordzij","year":"2009","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jaci.2023.12.029_bib10","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":"Soresina","year":"2008","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jaci.2023.12.029_bib11","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1007\/s10875-021-01090-8","article-title":"Simple measurement of IgA predicts immunity and mortality in ataxia-telangiectasia","volume":"41","author":"Zielen","year":"2021","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib12","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/j.it.2021.02.001","article-title":"ATM: translating the DNA damage response to adaptive immunity","volume":"42","author":"Weitering","year":"2021","journal-title":"Trend Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib13","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/nature04866","article-title":"ATM stabilizes DNA double-strand\u2013break complexes during V(D)J recombination","volume":"442","author":"Bredemeyer","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2023.12.029_bib14","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.aller.2014.06.007","article-title":"Comparison of major lymphocyte subpopulations and recent thymic emigrants in patients with ataxia telangiectasia and age-matched healthy groups","volume":"43","author":"Celiksoy","year":"2015","journal-title":"Allergol Immunopathol (Madr)"},{"key":"10.1016\/j.jaci.2023.12.029_bib15","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":"Moeini Shad","year":"2021","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib16","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1084\/jem.20041074","article-title":"Immunoglobulin class switch recombination is impaired in Atm-deficient mice","volume":"200","author":"Lumsden","year":"2004","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2023.12.029_bib17","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1084\/jem.20041162","article-title":"ATM is required for efficient recombination between immunoglobulin switch regions","volume":"200","author":"Reina-San-Martin","year":"2004","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2023.12.029_bib18","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1002\/1521-4141(200205)32:5<1300::AID-IMMU1300>3.0.CO;2-L","article-title":"Alternative end joining during switch recombination in patients with ataxia-telangiectasia","volume":"32","author":"Pan","year":"2002","journal-title":"Eur J Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib19","doi-asserted-by":"crossref","first-page":"3707","DOI":"10.4049\/jimmunol.170.7.3707","article-title":"ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region","volume":"170","author":"Pan-Hammarstrom","year":"2003","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib20","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20110325","article-title":"Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis","volume":"209","author":"Du","year":"2012","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2023.12.029_bib21","doi-asserted-by":"crossref","first-page":"2208","DOI":"10.1016\/j.jaci.2018.02.017","article-title":"Age-associated distribution of normal B-cell and plasma cell subsets in peripheral blood","volume":"141","author":"Blanco","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib22","doi-asserted-by":"crossref","first-page":"246","DOI":"10.3389\/fimmu.2019.00246","article-title":"The EuroFlow PID orientation tube for flow cytometric diagnostic screening of primary immunodeficiencies of the lymphoid system","volume":"10","author":"van der Burg","year":"2019","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib23","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.pediatrneurol.2020.07.014","article-title":"The phenotypic spectrum of PNKP-associated disease and the absence of immunodeficiency and cancer predisposition in a Dutch cohort","volume":"113","author":"Garrelfs","year":"2020","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jaci.2023.12.029_bib24","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20191688","article-title":"Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome","volume":"217","author":"Helfricht","year":"2020","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2023.12.029_bib25","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1038\/nprot.2016.043","article-title":"Detecting DNA double-stranded breaks in mammalian genomes by linear amplification-mediated high-throughput genome-wide translocation sequencing","volume":"11","author":"Hu","year":"2016","journal-title":"Nat Protoc"},{"key":"10.1016\/j.jaci.2023.12.029_bib26","doi-asserted-by":"crossref","first-page":"9152","DOI":"10.1158\/0008-5472.CAN-04-2727","article-title":"Identification and characterization of a novel and specific inhibitor of the ataxia-telangiectasia mutated kinase ATM","volume":"64","author":"Hickson","year":"2004","journal-title":"Cancer Res"},{"key":"10.1016\/j.jaci.2023.12.029_bib27","first-page":"91","article-title":"A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining","volume":"119","author":"van der Burg","year":"2009","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2023.12.029_bib28","doi-asserted-by":"crossref","first-page":"4659","DOI":"10.1182\/blood-2003-07-2527","article-title":"A novel DNA-dependent protein kinase inhibitor, NU7026, potentiates the cytotoxicity of topoisomerase II poisons used in the treatment of leukemia","volume":"103","author":"Willmore","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2023.12.029_bib29","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene Ontology: tool for the unification of biology. The Gene Ontology Consortium","volume":"25","author":"Ashburner","year":"2000","journal-title":"Nat Genet"},{"issue":"D1","key":"10.1016\/j.jaci.2023.12.029_bib30","doi-asserted-by":"crossref","first-page":"D325","DOI":"10.1093\/nar\/gkaa1113","article-title":"The Gene Ontology resource: enriching a GOld mine","volume":"49","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2023.12.029_bib31","doi-asserted-by":"crossref","first-page":"D419","DOI":"10.1093\/nar\/gky1038","article-title":"PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools","volume":"47","author":"Mi","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2023.12.029_bib32","doi-asserted-by":"crossref","first-page":"5608","DOI":"10.4049\/jimmunol.1501633","article-title":"DNA-PKcs is involved in Ig class switch recombination in human B cells","volume":"195","author":"Bjorkman","year":"2015","journal-title":"J Immunol"},{"issue":"7567","key":"10.1016\/j.jaci.2023.12.029_bib33","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1038\/nature14970","article-title":"Orientation-specific joining of AID-initiated DNA breaks promotes antibody class switching","volume":"525","author":"Dong","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2023.12.029_bib34","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1084\/jem.20050595","article-title":"Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation","volume":"203","author":"Pan-Hammarstr\u00f6m","year":"2006","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2023.12.029_bib35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-2776(06)93001-6","article-title":"Class switch recombination: a comparison between mouse and human","volume":"93","author":"Pan-Hammarstr\u00f6m","year":"2007","journal-title":"Adv Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib36","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.cell.2013.01.007","article-title":"Mechanisms of programmed DNA lesions and genomic instability in the immune system","volume":"152","author":"Alt","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2023.12.029_bib37","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":"McGrath-Morrow","year":"2020","journal-title":"Sci Rep"},{"key":"10.1016\/j.jaci.2023.12.029_bib38","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.molcel.2010.08.019","article-title":"AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling","volume":"39","author":"Sherman","year":"2010","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2023.12.029_bib39","doi-asserted-by":"crossref","first-page":"3137","DOI":"10.4049\/jimmunol.1801033","article-title":"Cutting edge: ATM influences germinal center integrity","volume":"202","author":"Nicolas","year":"2019","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2023.12.029_bib40","article-title":"A synthetic human 3D in\u00a0vitro lymphoid model enhancing B-cell survival and functional differentiation","volume":"26","author":"Braham","year":"2022","journal-title":"iScience"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674924000800?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674924000800?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,11,9]],"date-time":"2024-11-09T06:55:15Z","timestamp":1731135315000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674924000800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S0091674924000800"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2023.12.029","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2023.12.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology.","name":"copyright","label":"Copyright"}]}}