| Metadata | |
|---|---|
| ID | DOID:0111956 |
| Name | immunodeficiency 27B |
| Definition | A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. https://pubmed.ncbi.nlm.nih.gov/10192386/, https://pubmed.ncbi.nlm.nih.gov/19084105/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant IFNGR1 deficiency [EXACT] autosomal dominant immunodeficiency 27B, mycobacteriosis [EXACT] autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [EXACT] autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency [EXACT] autosomal dominant MSMD due to partial IFNgammaR1 deficiency [EXACT] autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency [EXACT] IMD27B [EXACT] |
| Parent Relationships |