Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.

Journal article

The present study focuses on a large family with an X-linked immunodeficiency in which there are variable clinical and laboratory phenotypes, including recurrent viral and bacterial infections, hypogammaglobulinemia, Epstein-Barr virus-driven lymphoproliferation, splenomegaly, colitis, and liver disease. Molecular and genetic analyses revealed that affected males were carriers of a hypomorphic hemizygous mutation in XIAP (XIAP(G466X)) that cosegregated with a rare polymorphism in CD40LG (CD40...

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Authors: Rigaud, S; Lopez-Granados, E; Sibéril, S; Gloire, G; Lambert, N

• Publication status: Published
• Journal: Blood
• Volume: 118
• Issue: 2
• Pages: 252-261
• Publication date: 2011-07-01
• DOI: 10.1182/blood-2011-01-328849
• EISSN: 1528-0020
• ISSN: 0006-4971
• Language: English
• Keywords: Genes, X-Linked; Humans; Epistasis, Genetic; Common Variable Immunodeficiency; Adult; Child; CD40 Ligand; Male; Adolescent; Glutamine; Polymorphism, Single Nucleotide; Mutation; Young Adult; Pedigree; Middle Aged; X-Linked Inhibitor of Apoptosis Protein; Female; Lymphoproliferative Disorders; Family; Arginine