autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Findings
No curated finding names autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
Definition from the Mondo Disease Ontology (MONDO:0017903), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IFNGR2HGNC:5440
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
- Also called
- autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiencyautosomal dominant MSMD due to partial IFNgammaR2 deficiencyautosomal dominant MSMD due to partial interferon gamma receptor 2 deficiencyIFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency