{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:39:06Z","timestamp":1761662346046,"version":"3.40.4"},"reference-count":18,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"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":[[2006]]},"abstract":"<i>Background: <\/i>X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare immunodeficiency disease caused by mutations of the CD40 ligand gene. Patients are subject to recurrent infections and have normal or elevated levels of IgM but markedly decreased serum IgG. <i>Objective:<\/i> We describe molecular genetic studies and clinical manifestations in three generations of one family, as well as results of long-term treatment of 2 young men with the disorder. <i>Methods:<\/i> Of 37 living family members, mutational analysis of the CD40 ligand gene was performed in 36 members. Laboratory data for patients and carriers were reviewed. <i>Results:<\/i> Four male family members had died of unexplained causes. The 3 patients with XHIGM syndrome and the 5 carriers all had a novel mutation located at Tyr 169 Asn (T526A) in exon 5, the tumor necrosis factor domain of the CD40 ligand gene. In the 3 patients, CD40 ligand expression in activated CD4+ T cells was below 1%. In the carriers, about half of activated CD4+ cells expressed CD40 ligand. One carrier had malignant lymphoma. Long-term (>20 years) intravenous immunoglobulin therapy in 2 patients improved IgG levels but did not fully suppress the high levels of IgM, nor did it prevent late complications (bronchiectasis and sclerosing cholangitis). <i>Conclusions:<\/i> Diagnosis of a genetic immunodeficiency, especially an X-linked disease such as XHIGM syndrome, should prompt a survey of the entire family.<\/jats:p>","DOI":"10.1159\/000091744","type":"journal-article","created":{"date-parts":[[2006,2,24]],"date-time":"2006-02-24T10:15:39Z","timestamp":1140776139000},"page":"1-8","source":"Crossref","is-referenced-by-count":7,"title":["X-Linked Hyper-Immunoglobulin M Syndrome: Molecular Genetic Study and Long-Time Follow-Up of Three Generations of a Chinese Family"],"prefix":"10.1159","volume":"140","author":[{"given":"Sheng-Chieh","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shyh-Dar","family":"Shyur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-I","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Chun","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Hsin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,4,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-065X.1994.tb00846.x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.71.2.150"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097%2F00008480-200112000-00006"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2249.2000.01142.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2F01.md.0000100046.06009.b0"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1385%2FCRIAI%3A19%3A2%3A183"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1006%2Fclim.1999.4725"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2897%2970123-9"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2899%2970245-3"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1385%2FCRIAI%3A19%3A2%3A205"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2249.2003.02184.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291521-4141%28199901%2929%3A01%3C367%3A%3AAID-IMMU367%3E3.0.CO%3B2-4"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.bmt.1703581"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM199508173330705"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1182%2Fblood-2003-06-2014"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM200002033420504"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1067%2Fmpd.2003.155"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.bmt.1703800"}],"container-title":["International Archives of Allergy and Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/91744","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/91744","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:57:50Z","timestamp":1745463470000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000091744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2006,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000091744","archive":["Portico"],"relation":{},"ISSN":["1018-2438","1423-0097"],"issn-type":[{"type":"print","value":"1018-2438"},{"type":"electronic","value":"1423-0097"}],"subject":[],"published":{"date-parts":[[2006]]}}}