Erschienen in:
01.12.2000 | Paper Report
Molecular nature of hyper-IgM syndrome type 2
verfasst von:
Thomas Dorner
Erschienen in:
Arthritis Research & Therapy
|
Ausgabe 1/2000
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Excerpt
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. The molecular nature of the intrinsic defect apparently originating in B cells in HIGM2 patients has not been identified previously. …