Details of Disease | DrugMAP

General Information of Disease (ID: DISKL9Q6)

Disease Name	Immunodeficiency, common variable, 2
Synonyms	CVID2; antibody deficiency due to TACI defect; hypogammaglobulinemia due to TACI deficiency; immunodeficiency, common variable, type 2; immunodeficiency, common variable, 2
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISKL9Q6: Immunodeficiency, common variable, 2
Disease Identifiers	MONDO ID MONDO_0009413 UMLS CUI C3150354 OMIM ID 240500 MedGen ID 461704

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
TNFRSF13B	TTL9OD4	Strong	Biomarker	[1]
TNFRSF13B	TTL9OD4	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
TNFRSF13B	OTBYKL89	Definitive	Autosomal recessive	[2]
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References

1	Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.Clin Transl Immunology. 2017 Oct 20;6(10):e159. doi: 10.1038/cti.2017.41. eCollection 2017 Oct.
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.