Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Disease Export to PDF
Name:
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Description:
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.
ORPHAcode:
319595
Synonyms:
MSMD due to partial STAT1 deficiency
MSMD due to partial signal transducer and activator of transcription 1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14