autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Findings

No curated finding names autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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.

Where it sits

A kind of

• inherited susceptibility to mycobacterial diseases

Resolves to: autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Also called

autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiencyautosomal dominant MSMD due to partial IFNgammaR1 deficiencyautosomal dominant MSMD due to partial interferon gamma receptor 1 deficiencyIFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiencyIFNGR1 deficiency, autosomal dominantIMD27Bimmunodeficiency 27Bimmunodeficiency 27B, mycobacteriosis, ADimmunodeficiency 27B, Mycobacteriosis, autosomal dominantimmunodeficiency type 27B