Details of Disease

General Information of Disease (ID: DIS0RJE3)

Disease Name Immunodeficiency, common variable, 3
Synonyms CVID3; antibody deficiency due to CD19 defect; immunodeficiency, common variable, 3; immunodeficiency, common variable, type 3
Disease Hierarchy
DISHE7JQ: Common variable immunodeficiency
DIS0RJE3: Immunodeficiency, common variable, 3
Disease Identifiers
MONDO ID
MONDO_0013283
MESH ID
C566275
UMLS CUI
C3150738
OMIM ID
613493
MedGen ID
462088

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
CD19 TTW640A Strong Biomarker [1]
CD19 TTW640A Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD19 OTCPF9NF Definitive Autosomal recessive [2]
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References

1 Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency.J Allergy Clin Immunol. 2011 Feb;127(2):538-541.e1-5. doi: 10.1016/j.jaci.2010.10.019. Epub 2010 Dec 14.
2 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.