immunodeficiency with hyper-IgM type 2 (DOID:0060758)
Alliance: disease page
Synonyms: activation-induced cytidine deaminase deficiency; AID deficiency; HIGM2; hyper-IgM syndrome type 2
Alt IDs: OMIM:605258, NCI:C129074, ORDO:101089, UMLS_CUI:C1720956
Definition: 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.