Details of Disease | DrugMAP

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.