{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T18:46:49Z","timestamp":1792522009696,"version":"4.5.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:00:00Z","timestamp":1732320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:00:00Z","timestamp":1732320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI20\/00761"],"award-info":[{"award-number":["PI20\/00761"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s10875-024-01833-3","type":"journal-article","created":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T01:11:39Z","timestamp":1732324299000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency"],"prefix":"10.1007","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2354-1999","authenticated-orcid":false,"given":"Blanca","family":"Urban","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4209-176X","authenticated-orcid":false,"given":"Laura","family":"Batlle-Mas\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3048-1058","authenticated-orcid":false,"given":"Janire","family":"Perurena-Prieto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5387-1908","authenticated-orcid":false,"given":"Marina","family":"Garcia-Prat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9564-8912","authenticated-orcid":false,"given":"Alba","family":"Parra-Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5622-778X","authenticated-orcid":false,"given":"Aina","family":"Aguil\u00f3-Cucurull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7340-2161","authenticated-orcid":false,"given":"M\u00f3nica","family":"Martinez-Gallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5601-9236","authenticated-orcid":false,"given":"Laith","family":"Moushib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5623-6862","authenticated-orcid":false,"given":"Mar\u00eda","family":"Antol\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1055-2063","authenticated-orcid":false,"given":"Jacques G.","family":"Rivi\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0346-5570","authenticated-orcid":false,"given":"Pere","family":"Soler-Palacin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3413-5133","authenticated-orcid":false,"given":"Romina","family":"Dieli-Crimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9788-189X","authenticated-orcid":false,"given":"Clara","family":"Franco-Jarava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5964-536X","authenticated-orcid":false,"given":"Roger","family":"Colobran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,23]]},"reference":[{"key":"1833_CR1","doi-asserted-by":"publisher","first-page":"1999","DOI":"10.3389\/fimmu.2018.01999","volume":"9","author":"HH Park","year":"2018","unstructured":"Park HH. Structure of TRAF Family: current understanding of receptor recognition. Front Immunol. 2018;9:1999.","journal-title":"Front Immunol"},{"issue":"7073","key":"1833_CR2","first-page":"208","volume":"439","author":"G Oganesyan","year":"2006","unstructured":"Oganesyan G, Saha SK, Guo B, He JQ, Shahangian A, Zarnegar B, et al. Critical role of TRAF3 in the toll-like receptor-dependent and -independent antiviral response. Nat 12 Gener. 2006;439(7073):208\u201311.","journal-title":"Nat 12 Gener"},{"issue":"3","key":"1833_CR3","first-page":"400","volume":"33","author":"R de P\u00e9rez","year":"2010","unstructured":"de P\u00e9rez R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, et al. Human TRAF3 adaptor molecule deficiency leads to impaired toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immun 24 Setembre. 2010;33(3):400\u201311.","journal-title":"Immun 24 Setembre"},{"key":"1833_CR4","doi-asserted-by":"publisher","first-page":"1129251","DOI":"10.3389\/fimmu.2023.1129251","volume":"14","author":"EL Hornick","year":"2023","unstructured":"Hornick EL, Bishop GA. TRAF3: Guardian of T lymphocyte functions. Front Immunol. 2023;14:1129251.","journal-title":"Front Immunol"},{"key":"1833_CR5","doi-asserted-by":"publisher","first-page":"2161","DOI":"10.3389\/fimmu.2018.02161","volume":"9","author":"GA Bishop","year":"2018","unstructured":"Bishop GA, Stunz LL, Hostager BS. TRAF3 as a Multifaceted Regulator of B lymphocyte survival and activation. Front Immunol. 2018;9:2161.","journal-title":"Front Immunol"},{"issue":"2","key":"1833_CR6","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.ccr.2007.07.003","volume":"12","author":"JJ Keats","year":"2007","unstructured":"Keats JJ, Fonseca R, Chesi M, Schop R, Baker A, Chng WJ, et al. Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma. Cancer Cell Agost. 2007;12(2):131\u201344.","journal-title":"Cancer Cell Agost"},{"key":"1833_CR7","doi-asserted-by":"publisher","first-page":"1081253","DOI":"10.3389\/fonc.2023.1081253","volume":"13","author":"J Jung","year":"2023","unstructured":"Jung J, Gokhale S, Xie P. TRAF3: a novel regulator of mitochondrial physiology and metabolic pathways in B lymphocytes. Front Oncol. 2023;13:1081253.","journal-title":"Front Oncol"},{"issue":"74","key":"1833_CR8","doi-asserted-by":"publisher","first-page":"eabn3800","DOI":"10.1126\/sciimmunol.abn3800","volume":"7","author":"W Rae","year":"2022","unstructured":"Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, et al. Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations. Sci Immunol 12 Agost. 2022;7(74):eabn3800.","journal-title":"Sci Immunol 12 Agost"},{"issue":"6","key":"1833_CR9","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.1016\/j.jaip.2019.02.004","volume":"7","author":"MG Seidel","year":"2019","unstructured":"Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, et al. The European Society for Immunodeficiencies (ESID) Registry Working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763\u201370.","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"11","key":"1833_CR10","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1038\/nrm3454","volume":"13","author":"S Kervestin","year":"2012","unstructured":"Kervestin S, Jacobson A. NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol Novembre. 2012;13(11):700\u201312.","journal-title":"Nat Rev Mol Cell Biol Novembre"},{"issue":"5","key":"1833_CR11","first-page":"611","volume":"2","author":"A Takata","year":"2021","unstructured":"Takata A, Hamanaka K, Matsumoto N. Refinement of the clinical variant interpretation framework by statistical evidence and machine learning. Med N Y N 14 maig. 2021;2(5):611\u2013e6329.","journal-title":"Med N Y N 14 maig"},{"issue":"7","key":"1833_CR12","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1101\/gr.257352.119","volume":"30","author":"MS Benitez-Cantos","year":"2020","unstructured":"Benitez-Cantos MS, Yordanova MM, O\u2019Connor PBF, Zhdanov AV, Kovalchuk SI, Papkovsky DB, et al. Translation initiation downstream from annotated start codons in human mRNAs coevolves with the Kozak context. Genome Res Juliol. 2020;30(7):974\u201384.","journal-title":"Genome Res Juliol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01833-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-024-01833-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-024-01833-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T15:47:28Z","timestamp":1777304848000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-024-01833-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,23]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["1833"],"URL":"https:\/\/doi.org\/10.1007\/s10875-024-01833-3","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,23]]},"assertion":[{"value":"3 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 November 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Vall d\u2019Hebron University Hospital: date: 11\/06\/2021, code: PR(AG)202\/2021.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Informed consent was obtained from all individuals participating in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"The authors affirm that the human research participants provided informed consent for publication of the data in this manuscript.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Publish"}},{"value":"The authors declare no competing interests.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}],"article-number":"47"}}