Summary Literature (0)

DOID:0060759 - immunodeficiency with hyper IgM type 5

Disease Ontology Definition:A hyperimmunoglobulin syndrome characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.

Synonyms: HIGM5, hyper-IgM syndrome 5, hyper-IgM syndrome due to UNG deficiency, hyper-IgM syndrome due to uracil N-glycosylase,

Echinobase Genes : ung


OMIM:

MIM:608106 - immunodeficiency with hyper-igm, type 5; higm5

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

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