DISEASES

Disease-gene associations mined from literature

Human genes for immunodeficiency with hyper-IgM type 4

Immunodeficiency with hyper-IgM type 4 [DOID:0060760]

A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.

Synonyms:  immunodeficiency with hyper-IgM type 4,  DOID:0060760,  immunodeficiency with hyperIgM type 4,  HIGM4,  hyper-IgM syndrome type 4 ...