{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:12:16Z","timestamp":1792152736935,"version":"4.4.0"},"reference-count":26,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int Arch Allergy Immunol"],"published-print":{"date-parts":[[2008]]},"abstract":"<i>Background:<\/i> Common variable immunodeficiency (CVID) is the most common primary antibody deficiency syndrome in humans, but it remains a diagnosis of exclusion in most cases. Several genetically defined primary immunodeficiencies mimic CVID. Among them is the X-linked lymphoproliferative syndrome (XLP) which was shown to be caused by either mutations in the gene <i>SH2D1a<\/i>\/SAP or, more recently, in the <i>BIRC4<\/i>\/XIAP gene. <i>Methods:<\/i> We therefore analyzed a cohort of 28 male CVID patients and 2 patients with an IgG subclass deficiency for the prevalence of mutations in <i>BIRC4<\/i>, encoding for XIAP by direct sequencing. <i>Results:<\/i> All patients showed a wild-type sequence of <i>BIRC4<\/i>\/XIAP. Two SNPs, rs5956583 (dbSNP126) located in exon 6 (P\u2192Q) and rs28382740 (dbSNP126) in the 3\u2032 untranslated region were observed at the same frequencies as reported in public databases. <i>Conclusions:<\/i> We found no patient with a defect in the coding sequence of <i>BIRC4<\/i>\/XIAP in our cohort of 30 hypogammaglobulinemic patients. We therefore estimate that XLP caused by XIAP deficiency may be a very rare differential diagnosis in male patients with CVID.<\/jats:p>","DOI":"10.1159\/000135702","type":"journal-article","created":{"date-parts":[[2008,6,5]],"date-time":"2008-06-05T07:36:29Z","timestamp":1212651389000},"page":"147-151","source":"Crossref","is-referenced-by-count":11,"title":["Sequence Analysis of <i>BIRC4<\/i>\/XIAP in Male Patients with Common Variable Immunodeficiency"],"prefix":"10.1159","volume":"147","author":[{"given":"Ulrich","family":"Salzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Hagena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Webster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo","family":"Grimbacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,6,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1006%2Fclim.1999.4725"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2Fni902"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1600"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1601"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJMoa051568"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2249.2001.01556.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00431-002-1083-9"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2249.2004.02581.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2F26683"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2F2424"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.95.23.13765"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038%2Fnri1761"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2003-09-3359"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1084%2Fjem.194.3.235"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2Fnm1189"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1084%2Fjem.20042432"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood.V98.5.1321"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2249.2001.01599.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007%2FBF02983239"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature05257"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1006%2Fclim.1999.4799"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2005-07-2955"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI25720"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002%2F1521-4141%28200009%2930%3A9%3C2516%3A%3AAID-IMMU2516%3E3.0.CO%3B2-Z"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1006%2Fclim.2001.5197"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood.V99.5.1544"}],"container-title":["International Archives of Allergy and Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/135702","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/135702","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T01:25:58Z","timestamp":1745457958000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000135702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2008,9,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000135702","archive":["Portico"],"relation":{},"ISSN":["1018-2438","1423-0097"],"issn-type":[{"value":"1018-2438","type":"print"},{"value":"1423-0097","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008]]}}}