Details of Disease

General Information of Disease (ID: DIS0V8SJ)

Disease Name Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Synonyms primary immunodeficiency with post-MMR vaccine viral infection; immunodeficiency type 44; IMD44; immunodeficiency 44
Definition
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.
Disease Hierarchy
DISNGCMN: Inborn error of immunity
DIS0V8SJ: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Disease Identifiers
MONDO ID
MONDO_0014715
UMLS CUI
C4225260
OMIM ID
616636
MedGen ID
904009
Orphanet ID
431166

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IFNAR2 TTMQB37 Strong SusceptibilityMutation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STAT2 OTO9G2RZ Strong Autosomal recessive [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.