Abstract
The hyper immunoglobulin M syndromes(HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination,with or without defects of somatic hypermutation.They can be classified as defects of signalling through CD40 causing combined immunodeficiency,or intrinsic defects in B cells of the mechanism of class switch recombination resulting in a pure humoral immunodeficiency.This review summarizes the molecular pathogenesis of HIGM. Key words: Hyper IgM syndrome; Class switch recombination defect; Somatic hypermutation
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