Human genes for immunodeficiency with hyper-IgM type 2
Immunodeficiency with hyper-IgM type 2 [DOID:0060758]
A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
Synonyms: immunodeficiency with hyper-IgM type 2, DOID:0060758, immunodeficiency with hyperIgM type 2, HIGM2, activation-induced cytidine deaminase deficiency ...