{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:26:09Z","timestamp":1777389969686,"version":"3.51.4"},"reference-count":22,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T00:00:00Z","timestamp":1585699200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013891","name":"Immunodeficiency Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013891","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001245","name":"Jeffrey Modell Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013891","name":"Immunodeficiency Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013891","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2020,4]]},"DOI":"10.1016\/j.clim.2020.108366","type":"journal-article","created":{"date-parts":[[2020,2,21]],"date-time":"2020-02-21T17:26:54Z","timestamp":1582306014000},"page":"108366","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"special_numbering":"C","title":["Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency"],"prefix":"10.1016","volume":"213","author":[{"given":"Amit","family":"Nahum","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raz","family":"Somech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Shubinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacov","family":"Levy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnon","family":"Broides","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.clim.2020.108366_bb0005","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1016\/j.jaci.2015.04.049","volume":"136","author":"Bonilla","year":"2015","journal-title":"J Allergy Clin Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0010","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1007\/s10875-013-9917-y","article-title":"The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901","volume":"33","author":"Dvorak","year":"2013","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0015","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0092-8674(01)00309-9","article-title":"Artemis, a novel DNA double-strand break repair\/V(D)J recombination protein, is mutated in human severe combined immune deficiency","volume":"105","author":"Moshous","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.clim.2020.108366_bb0020","doi-asserted-by":"crossref","first-page":"6323","DOI":"10.4049\/jimmunol.168.12.6323","article-title":"A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan speaking native Americans","volume":"168","author":"Li","year":"2002","journal-title":"J. Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0025","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/S0092-8674(02)00671-2","article-title":"Hairpin opening and overhang processing by an Artemis\/DNAdependent protein kinase complex in nonhomologous end joining and V(D)J recombination","volume":"108","author":"Ma","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.clim.2020.108366_bb0030","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.molcel.2004.10.029","article-title":"A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci","volume":"16","author":"Riballo","year":"2004","journal-title":"Mol. Cell"},{"key":"10.1016\/j.clim.2020.108366_bb0035","doi-asserted-by":"crossref","first-page":"3601","DOI":"10.1182\/blood-2008-11-188383","article-title":"Reduced immunoglobulin class switch recombination in the absence of Artemis","volume":"114","author":"Rivera-Munoz","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.clim.2020.108366_bb0040","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.molimm.2013.05.004","article-title":"Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL","volume":"56","author":"Bajin","year":"2013","journal-title":"Mol. Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0045","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.clim.2013.08.006","article-title":"The many faces of Artemis-deficient combined immunodeficiency: two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation","volume":"149","author":"Lee","year":"2013","journal-title":"Clin. Immunol."},{"issue":"25","key":"10.1016\/j.clim.2020.108366_bb0050","doi-asserted-by":"crossref","first-page":"7361","DOI":"10.1093\/hmg\/ddv437","article-title":"DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency","volume":"24","author":"Volk","year":"2015","journal-title":"Hum Mol Genet."},{"issue":"9","key":"10.1016\/j.clim.2020.108366_bb0055","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.dnarep.2010.07.001","article-title":"An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity","volume":"9","author":"Woodbine","year":"2010","journal-title":"DNA Repair (Amst)"},{"issue":"7","key":"10.1016\/j.clim.2020.108366_bb0060","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/s10815-012-9765-3","article-title":"Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis","volume":"29","author":"Tomashov-Matar","year":"2012","journal-title":"J Assist Reprod Genet."},{"issue":"1","key":"10.1016\/j.clim.2020.108366_bb0065","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.jaci.2015.03.005","article-title":"Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency","volume":"136","author":"Felgentreff","year":"2015","journal-title":"J Allergy Clin Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0070","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.clim.2018.12.019","article-title":"Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C","volume":"200","author":"Sundin","year":"2019","journal-title":"Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0075","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1172\/JCI16774","article-title":"Villartay JP. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis","volume":"111","author":"Moshous","year":"2003","journal-title":"J Clin Invest."},{"key":"10.1016\/j.clim.2020.108366_bb0080","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/gene.2011.16","article-title":"Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide","volume":"12","author":"Ijspeert","year":"2011","journal-title":"Gene Immun."},{"key":"10.1016\/j.clim.2020.108366_bb0085","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/nri2336","article-title":"Unravelling the association of partial T-cell immunodeficiency and immune dysregulation","volume":"8","author":"Liston","year":"2008","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0090","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.jaci.2014.04.042","article-title":"A hypomorphic recombination- activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency","volume":"134","author":"Abolhassani","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.clim.2020.108366_bb0095","doi-asserted-by":"crossref","first-page":"18392","DOI":"10.1016\/j.clim.2010.01.013","article-title":"More than just SCID\u2013the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2","volume":"135","author":"Niehues","year":"2010","journal-title":"Clin. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2020.108366_bb0100","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1159\/000337577","article-title":"Rituximab and cytokine release syndrome","volume":"5","author":"Kulkarni","year":"2012","journal-title":"Case Rep Oncol."},{"key":"10.1016\/j.clim.2020.108366_bb0105","doi-asserted-by":"crossref","first-page":"3031","DOI":"10.1084\/jem.20081915","article-title":"Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination","volume":"205","author":"Du","year":"2008","journal-title":"J. Exp. Med."},{"issue":"2","key":"10.1016\/j.clim.2020.108366_bb0110","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1007\/s10875-009-9349-x","article-title":"Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency","volume":"30","author":"Rohr","year":"2010","journal-title":"J. Clin. Immunol."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661619306473?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661619306473?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T15:59:16Z","timestamp":1761494356000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661619306473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":22,"alternative-id":["S1521661619306473"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2020.108366","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2020.108366","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108366"}}