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Article

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

Blood - 14 Jul 2011

Rigaud Stéphanie, Lopez-Granados Eduardo, Sibéril Sophie, Gloire Geoffrey, Lambert Nathalie, Lenoir Christelle, Synaeve Cindy, Stacey Maria, Fugger Lars, Stephan Jean-Louis, Fischer Alain, Picard Capucine, Durandy Anne, Chapel Helen, Latour Sylvain

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21543760
DOI: 10.1182/blood-2011-01-328849

Genes

XIAP

Variants

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Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.PMID 21543760Read ↗

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