immunodeficiency 28 (DOID:0111995)
Alliance: disease page
Synonyms: IFNGR2 deficiency; IMD28; immunodeficiency 28, mycobacteriosis; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency; MSMD due to complete IFNgammaR2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency
Alt IDs: OMIM:614889, ORDO:319547
Definition: A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11.