Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency with hyper-IgM type 2
DOID:0060758
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency with hyper-IgM type 2

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.
Synonyms
  • activation-induced cytidine deaminase deficiency
  • AID deficiency
Cross References
Parent Terms
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