Details of Disease

General Information of Disease (ID: DIS5VBGX)

Disease Name Immunodeficiency 28
Synonyms
IMD28; immunodeficiency 28, Mycobacteriosis; Ifngr2 deficiency; primary immunodeficiency disease caused by mutation in IFNGR2; IFNGR2 primary immunodeficiency disease; immunodeficiency 28; immunodeficiency type 28
Definition Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.
Disease Hierarchy
DISNGCMN: Inborn error of immunity
DIS5VBGX: Immunodeficiency 28
Disease Identifiers
MONDO ID
MONDO_0013953
UMLS CUI
C4013947
OMIM ID
614889
MedGen ID
862384

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IFNGR2 TT13TL0 Strong Autosomal recessive [1]
IFNGR2 TT13TL0 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFNGR2 OTVOPCHW Strong Autosomal recessive [1]
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References

1 Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16.
2 Mendelian susceptibility to mycobacterial disease: 2014-2018 update.Immunol Cell Biol. 2019 Apr;97(4):360-367. doi: 10.1111/imcb.12210. Epub 2018 Oct 25.