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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: autosomal recessive IFNGR1 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, autosomal recessive MSMD due to partial IFNgammaR1 deficiency, autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, IMD27A
Xenbase Genes
:
il12b,
stat1,
ifngr2,
ifngr2.2,
ifngr1
| MIM:209950 - IMMUNODEFICIENCY 27A; IMD27A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee