Details of Disease

General Information of Disease (ID: DIS4E6DF)

Disease Name Immunodeficiency, common variable, 1
Synonyms immunodeficiency, common variable; CVID1; antibody deficiency due to Icos defect; immunodeficiency, common variable, type 1; immunodeficiency, common variable, 1
Disease Hierarchy
DISHE7JQ: Common variable immunodeficiency
DIS4E6DF: Immunodeficiency, common variable, 1
Disease Identifiers
MONDO ID
MONDO_0011864
UMLS CUI
C3149378
OMIM ID
607594
MedGen ID
460728

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ICOS TTE5VP6 Strong Autosomal recessive [1]
ICOS TTE5VP6 Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
INO80 OTJBMS8T Disputed Autosomal recessive [3]
ICOS OT82PDEY Strong Autosomal recessive [1]
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References

1 ICOS is critical for CD40-mediated antibody class switching. Nature. 2001 Jan 4;409(6816):102-5. doi: 10.1038/35051107.
2 The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.
3 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.