Details of Disease

General Information of Disease (ID: DIS50C2I)

• Disease Name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
• Synonyms: immunodeficiency 31A, Mycobacteriosis, autosomal dominant; IMD31A; immunodeficiency 31A; Stat1 deficiency, autosomal dominant; autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1; STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; immunodeficiency type 31A; MSMD due to partial STAT1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
• Definition: 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.
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DIS50C2I: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013956
  UMLS CUI: C4013950
  OMIM ID: 614892
  MedGen ID: 862387
  Orphanet ID: 319595

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
STAT1	TTN7R6K	moderate	Biomarker	[1]
STAT1	TTN7R6K	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STAT1	OTLMBUZ6	Strong	Autosomal dominant	[2]

References

• [1] Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.Oral Dis. 2019 Apr;25(3):684-692. doi: 10.1111/odi.12881. Epub 2018 Jun 8.
• [2] Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease. Hum Mutat. 2012 Sep;33(9):1377-87. doi: 10.1002/humu.22113. Epub 2012 Jun 7.