immunodeficiency with hyper-IgM type 2

Summary

DOID:0060758 - immunodeficiency with hyper-IgM type 2

Disease Ontology 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: AID deficiency, HIGM2, activation-induced cytidine deaminase deficiency, hyper-IgM syndrome type 2,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aicda

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011528 - hyper-IgM syndrome type 2

MONDO:0011528 - hyper-IgM syndrome type 2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hyperimmunoglobulin syndrome (is_a)