Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Findings
No curated finding names Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
Definition from the Mondo Disease Ontology (MONDO:0020530), 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.
- IFNGR1HGNC:5439
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
- Also called
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiencyMendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiencyMSMD due to complete IFNgammaR1 deficiencyMSMD due to complete interferon gamma receptor 1 deficiency