Summary Literature (0)

DOID:0111956 - immunodeficiency 27B

Disease Ontology Definition:A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.

Synonyms: autosomal dominant IFNGR1 deficiency, autosomal dominant immunodeficiency 27B, mycobacteriosis, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency, autosomal dominant MSMD due to partial IFNgammaR1 deficiency, autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, IMD27B

Xenbase Genes : ifngr1


MIM:

MIM:615978 - IMMUNODEFICIENCY 27B; IMD27B

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

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