Details of Disease | DrugMAP

General Information of Disease (ID: DISQYNQR)

Disease Name	Immunodeficiency, common variable, 12
Synonyms	CVID12; NFKB1 deficiency; immunodeficiency, common variable, 12; common variable immunodeficiency caused by mutation in NFKB1; immunodeficiency, common variable, type 12; NFKB1 common variable immunodeficiency
Definition	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISQYNQR: Immunodeficiency, common variable, 12
Disease Identifiers	MONDO ID MONDO_0014697 UMLS CUI C4225277 OMIM ID 616576 MedGen ID 906018

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
NFKB1	TTUIZKC	Strong	Biomarker	[1]
NFKB1	TTUIZKC	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NFKB1	OTNRRD8I	Definitive	Autosomal dominant	[2]
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References

1	Loss-of-function nuclear factor B subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.J Allergy Clin Immunol. 2018 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2.
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.