Term Name: | immunodeficiency 28 |
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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 ) |