Human genes for immunodeficiency 27A
Immunodeficiency 27A [DOID:0111955]
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 IFNGR1 on chromosome 6q23.3.
Synonyms: immunodeficiency 27A, DOID:0111955, autosomal recessive IFNGR1 deficiency, autosomal recessive immunodeficiency 27A, mycobacteriosis, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency ...