Details of Disease

General Information of Disease (ID: DISUPB0X)

Disease Name Immunodeficiency 45
Synonyms immunodeficiency 45; IMD45; immunodeficiency type 45
Disease Hierarchy
DIS093I0: Immunodeficiency
DISUPB0X: Immunodeficiency 45
Disease Identifiers
MONDO ID
MONDO_0014727
UMLS CUI
C4225252
OMIM ID
616669
MedGen ID
901044

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
IFNAR2 TTMQB37 Limited Biomarker [1]
IFNAR2 TTMQB37 Strong Autosomal recessive [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IFNAR2 OTBIRNIJ Strong Autosomal recessive [1]
STAT2 OTO9G2RZ Strong GermlineCausalMutation [2]
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References

1 Human IFNAR2 deficiency: Lessons for antiviral immunity. Sci Transl Med. 2015 Sep 30;7(307):307ra154. doi: 10.1126/scitranslmed.aac4227.
2 STAT2 deficiency and susceptibility to viral illness in humans. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3053-8. doi: 10.1073/pnas.1220098110. Epub 2013 Feb 7.