| Metadata | |
|---|---|
| ID | DOID:0111995 |
| Name | immunodeficiency 28 |
| 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. https://pubmed.ncbi.nlm.nih.gov/11335769/, https://pubmed.ncbi.nlm.nih.gov/19084105/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IFNGR2 deficiency [EXACT] IMD28 [EXACT] immunodeficiency 28, mycobacteriosis [EXACT] Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency [EXACT] Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency [EXACT] MSMD due to complete IFNgammaR2 deficiency [EXACT] MSMD due to complete interferon gamma receptor 2 deficiency [EXACT] |
| Parent Relationships |