immunodeficiency 27A (DOID:0111955)
Alliance: disease page
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
Alt IDs: OMIM:209950, MESH:C535530, ORDO:319569
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.