Details of Disease

General Information of Disease (ID: DIS419ET)

• Disease Name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
• Synonyms: interferon gamma, receptor 1, deficiency; IFNGR1 deficiency; MSMD due to complete interferon gamma receptor 1 deficiency; MSMD due to complete IFNgammaR1 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1; IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
• Definition: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DIS419ET: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFNGR1	OTCTQBWW	Supportive	Autosomal recessive	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.