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immunodeficiency with hyper-IgM, TYPE 4

Hyper-IgM syndrome (HIGM) is a primary immunodeficiency characterized by normal to elevated serum levels of IgM and low levels or the absence of IgG, IgA, and IgE. 
HIGMa is a defect in class switch recombination downstream of the AICDA gene that does not impair Somatic Hyper Mutation.

ABREVIATION(S):
HIGM4

TYPE: immunodeficiency

DNAtraffic protein(s) related to disease: AICDA (AID)

OMIM: 608184

Last modification date: July 6, 2011