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Disease Ontology Browser
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, ICD10CM:D80.5, ORDO:101089, ORDO:183666
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory