Details of Disease

General Information of Disease (ID: DISPKQV6)

Disease Name Immunodeficiency 87 and autoimmunity
Synonyms IMD87; immunodeficiency due to DEF6 deficiency
Definition
An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.
Disease Hierarchy
DIS093I0: Immunodeficiency
DISPKQV6: Immunodeficiency 87 and autoimmunity
Disease Identifiers
MONDO ID
MONDO_0030457
UMLS CUI
C5562070
OMIM ID
619573
MedGen ID
1794280

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
DEF6 OTIRBYVK Strong Autosomal recessive [1]
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References

1 Loss of IRF-4-binding protein leads to the spontaneous development of systemic autoimmunity. J Clin Invest. 2006 Mar;116(3):703-14. doi: 10.1172/JCI24096. Epub 2006 Feb 9.