Term Name: immunodeficiency 28
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
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.
Ontology: Human Disease [DOID:0111995]   ( DOID:0111995 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease