{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T19:47:13Z","timestamp":1778960833722,"version":"3.51.4"},"reference-count":18,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2017,10]]},"DOI":"10.1016\/j.clim.2017.07.003","type":"journal-article","created":{"date-parts":[[2017,7,10]],"date-time":"2017-07-10T14:32:34Z","timestamp":1499697154000},"page":"41-45","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia"],"prefix":"10.1016","volume":"183","author":[{"given":"Christoph B.","family":"Geier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Piller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4752-8748","authenticated-orcid":false,"given":"Martha M.","family":"Eibl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Ciznar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denisa","family":"Ilencikova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann M.","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2017.07.003_bb0005","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1542\/peds.9.6.722","article-title":"Agammaglobulinemia","volume":"9","author":"Bruton","year":"1952","journal-title":"Pediatrics"},{"key":"10.1016\/j.clim.2017.07.003_bb0010","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nri3466","article-title":"Primary antibody deficiencies","volume":"13","author":"Durandy","year":"2013","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.clim.2017.07.003_bb0015","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1016\/j.molimm.2006.08.003","article-title":"Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia","volume":"44","author":"Kristufek","year":"2007","journal-title":"Mol. Immunol."},{"key":"10.1016\/j.clim.2017.07.003_bb0020","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1128\/CMR.00001-09","article-title":"Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections","volume":"22","author":"Fried","year":"2009","journal-title":"Clin. Microbiol. Rev."},{"key":"10.1016\/j.clim.2017.07.003_bb0025","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/gene.2012.12","article-title":"The immunoglobulin heavy chain locus: genetic variation, missing data, and implications for human disease","volume":"1312","author":"Watson","year":"2012","journal-title":"Genes Immun."},{"key":"10.1016\/j.clim.2017.07.003_bb0030","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1034\/j.1600-065X.2000.17815.x","article-title":"Molecular basis of IgG subclass deficiency","volume":"178","author":"Pan","year":"2000","journal-title":"Immunol. Rev."},{"key":"10.1016\/j.clim.2017.07.003_bb0035","doi-asserted-by":"crossref","first-page":"1962","DOI":"10.1002\/ajmg.a.35289","article-title":"A child with an inherited 0.31Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome","volume":"158A","author":"Holder","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.clim.2017.07.003_bb0040","doi-asserted-by":"crossref","first-page":"2324","DOI":"10.1002\/ajmg.a.31438","article-title":"Terminal 14q32.33 deletion: genotype-phenotype correlation","volume":"140","author":"Maurin","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.clim.2017.07.003_bb0045","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1097\/MCD.0b013e3283438200","article-title":"A clinical report and further delineation of the 14q32 deletion syndrome","volume":"20","author":"Youngs","year":"2011","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.clim.2017.07.003_bb0050","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1002\/ajmg.a.33876","article-title":"A deletion 13q34\/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia","volume":"155A","author":"Pallister","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.clim.2017.07.003_bb0055","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1002\/ajmg.a.32831","article-title":"The ring 14 syndrome: clinical and molecular definition","volume":"149A","author":"Zollino","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.clim.2017.07.003_bb0060","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.smim.2007.12.002","article-title":"Plasma cell development: from B-cell subsets to long-term survival niches","volume":"20","author":"Fairfax","year":"2008","journal-title":"Semin. Immunol."},{"key":"10.1016\/j.clim.2017.07.003_bb0065","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S1474-4422(13)70260-6","article-title":"Rasmussen's encephalitis: clinical features, pathobiology, and treatment advances","volume":"13","author":"Varadkar","year":"2014","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.clim.2017.07.003_bb0070","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1056\/NEJM198509193131216","article-title":"Echovirus encephalitis\/myositis in X-linked agammaglobulinemia","volume":"313","author":"Mease","year":"1985","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2017.07.003_bb0075","doi-asserted-by":"crossref","first-page":"3352","DOI":"10.1002\/dvdy.21748","article-title":"Xenopus BTBD6 and its Drosophila homologue lute are required for neuronal development","volume":"237","author":"Bury","year":"2008","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.clim.2017.07.003_bb0080","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/jnr.10843","article-title":"Patterns of Jagged1, Jagged2, Delta-like 1 and Delta-like 3 expression during late embryonic and postnatal brain development suggest multiple functional roles in progenitors and differentiated cells","volume":"75","author":"Irvin","year":"2004","journal-title":"J. Neurosci. Res."},{"key":"10.1016\/j.clim.2017.07.003_bb0085","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.rinim.2013.05.004","article-title":"Perturbations of the CD8+ T-cell repertoire in CVID patients with complications","volume":"3","author":"Viallard","year":"2013","journal-title":"Res. Immunol."},{"key":"10.1016\/j.clim.2017.07.003_bb0090","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.clim.2015.09.002","article-title":"High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia","volume":"161","author":"Ramesh","year":"2015","journal-title":"Clin. Immunol."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661617304709?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661617304709?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:00:22Z","timestamp":1761494422000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661617304709"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":18,"alternative-id":["S1521661617304709"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2017.07.003","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2017.07.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}