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Disease Ontology Browser
immunodeficiency with hyper-IgM type 2 (DOID:0060758)
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 hyperimmunoglobulin syndrome 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/13/2017
MGI 6.10
The Jackson Laboratory