Details of Disease

General Information of Disease (ID: DIS37EJO)

Disease Name Immunodeficiency 76
Synonyms combined immunodeficiency due to FCHO1 deficiency; IMD76; immunodeficiency 76; immunodeficiency due to FCHO1 deficiency
Definition
An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.
Disease Hierarchy
DIS093I0: Immunodeficiency
DIS37EJO: Immunodeficiency 76
Disease Identifiers
MONDO ID
MONDO_0030898
UMLS CUI
C5543004
OMIM ID
619164
MedGen ID
1781281

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
FCHO1 OTDNDGI9 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.