| Metadata | |
|---|---|
| ID | DOID:0111955 |
| Name | immunodeficiency 27A |
| Definition | A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. https://pubmed.ncbi.nlm.nih.gov/19084105/, https://pubmed.ncbi.nlm.nih.gov/8960473/, https://pubmed.ncbi.nlm.nih.gov/8960475/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive IFNGR1 deficiency [EXACT] autosomal recessive immunodeficiency 27A, mycobacteriosis [EXACT] autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency [EXACT] autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency [EXACT] autosomal recessive MSMD due to partial IFNgammaR1 deficiency [EXACT] autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency [EXACT] IMD27A [EXACT] |
| Parent Relationships |