Details of Disease

General Information of Disease (ID: DIS3VZ38)

Disease Name Immunodeficiency 86
Synonyms IMD86
Disease Hierarchy
DIS093I0: Immunodeficiency
DIS3VZ38: Immunodeficiency 86
Disease Identifiers
MONDO ID
MONDO_0030448
UMLS CUI
C5561995
OMIM ID
619549
MedGen ID
1794205

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
SPPL2A OTCVF6MM Limited Autosomal recessive [1]
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References

1 Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.