autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Findings
No curated finding names autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, 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:0017900), 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 recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
- Also called
- autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiencyMendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiencyMSMD due to complete IFNgammaR2 deficiencyMSMD due to complete interferon gamma receptor 2 deficiency