Details of Disease | DrugMAP

General Information of Disease (ID: DIS89D2G)

Disease Name	Immunodeficiency 39
Synonyms	IMD39; immunodeficiency 39; primary immunodeficiency disease caused by mutation in IRF7; IRF7 primary immunodeficiency disease; immunodeficiency type 39
Definition	Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.
Disease Hierarchy	DISNGCMN: Inborn error of immunity DIS89D2G: Immunodeficiency 39
Disease Identifiers	MONDO ID MONDO_0014597 UMLS CUI C4225358 OMIM ID 616345 MedGen ID 904167

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IRF7	OTC1A2PQ	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science. 2015 Apr 24;348(6233):448-53. doi: 10.1126/science.aaa1578. Epub 2015 Mar 26.