Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
MONDO:0019146
inherited susceptibility to mycobacterial diseases
is_a
IMD31A
related
MSMD due to partial STAT1 deficiency
exact
MSMD due to partial signal transducer and activator of transcription 1 deficiency
exact
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
exact
STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
exact
autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1
exact
immunodeficiency 31A
related
immunodeficiency type 31A
exact