Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Findings

No curated finding names Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Juvenile onset · Childhood onset

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: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Also called

autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1immunodeficiency type 31AMendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiencyMSMD due to partial signal transducer and activator of transcription 1 deficiencyMSMD due to partial STAT1 deficiencySTAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency