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DOID:0111955 - immunodeficiency 27A
Disease Ontology Definition:A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
Synonyms: IMD27A, autosomal recessive IFNGR1 deficiency, autosomal recessive MSMD due to partial IFNgammaR1 deficiency, autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, autosomal recessive immunodeficiency 27A, mycobacteriosis, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency,
Xenbase Genes
:
il12b,
stat1,
ifngr2.1,
ifngr2.2,
ifngr1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee