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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-02-2009
Symbol HIGM3
Location 20q13
Name immunodeficiency with hyper IgM, syndrome 3
Corresponding gene CD40
Main clinical features susceptibility to bacterial and opportunistic infections
Genetic determination autosomal recessive
Function/system disorder defense and immunity
Type disease
Gene mutationChromosome rearrangementEffectComments
various types      
Remark(s) mutation in CD40 can lead to an alteration of function, including the change of antigen epitope and the binding affinity with CD40L (Qi 2009)