Details of Disease

General Information of Disease (ID: DIS0BML0)

• Disease Name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
• Synonyms: IMD38; immunodeficiency 38, Mycobacteriosis, autosomal recessive; immunodeficiency 38 with basal ganglia calcification; ISG15 deficiency, autosomal recessive; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15; MSMD due to complete ISG15 deficiency; ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; immunodeficiency 38
• Definition: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.|Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DIS0BML0: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0014502
  UMLS CUI: C4015293
  OMIM ID: 616126
  MedGen ID: 863730
  Orphanet ID: 319563

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
ISG15	TTVOH3T	Limited	Biomarker	[1]
ISG15	TTVOH3T	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ISG15	OT53QQ7N	Strong	Autosomal recessive	[2]

References

• [1] Human intracellular ISG15 prevents interferon-/ over-amplification and auto-inflammation.Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12.
• [2] Mycobacterial disease and impaired IFN- immunity in humans with inherited ISG15 deficiency. Science. 2012 Sep 28;337(6102):1684-8. doi: 10.1126/science.1224026. Epub 2012 Aug 2.