X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family

International Archives of Allergy and Immunology
Sheng-Chieh LinLi-Hsin Huang

Abstract

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. 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. 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. 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). ...Continue Reading

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Citations

Sep 27, 2012·Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi·Hu-Yuan TsaiYao-Hsu Yang
Dec 7, 2013·Expert Review of Clinical Immunology·Armin Hirbod-MobarakehNima Rezaei
Mar 30, 2013·The Pediatric Infectious Disease Journal·Wen-I LeeShyh-Dar Shyur
Nov 30, 2011·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Sheng-Chieh LinBor-Luen Chiang

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