Abstract
Molecular nature of hyper-IgM syndrome type 2
Highlights
A rare human immunodeficiency disease, the hyper-IgM syndrome (HIGM), is characterized by normal or elevated serum IgM levels, a lack of detectable IgG, IgA, and IgE and a high susceptibility to bacterial infections
Whereas the molecular basis of the X-linked form (HIGM1) is mutations in the gene coding for CD40L, another HIGM syndrome (HIGM2) has been described with autosomal recessive inheritance, normal CD40L sequences and CD40L/CD40 membrane expression
This study identified 10 independent mutations in the human activation-induced cytidine deaminase (AID) gene in 18 patients with HIGM2 from 12 unrelated families
Summary
A rare human immunodeficiency disease, the hyper-IgM syndrome (HIGM), is characterized by normal or elevated serum IgM levels, a lack of detectable IgG, IgA, and IgE and a high susceptibility to bacterial infections. Molecular nature of hyper-IgM syndrome type 2 : Current Science Ltd2000 : : 130753311 Aff[1] Charite Hospital, Berlin
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