Details of Disease

General Information of Disease (ID: DISMX9JC)

Disease Name Immunodeficiency 81
Synonyms T-B+ severe combined immunodeficiencydue to SLP76 deficiency; IMD81; immunodeficiency 81
Definition
A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.
Disease Hierarchy
DIS093I0: Immunodeficiency
DISMX9JC: Immunodeficiency 81
Disease Identifiers
MONDO ID
MONDO_0030302
UMLS CUI
C5543540
OMIM ID
619374
MedGen ID
1788669

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
LCP2 OT57KE22 Limited Unknown [1]
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References

1 Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects. J Exp Med. 2021 Mar 1;218(3):e20201062. doi: 10.1084/jem.20201062.