Details of Disease | DrugMAP

General Information of Disease (ID: DISGAOEI)

Disease Name	Immunodeficiency, common variable, 10
Synonyms	Deficit in anterior pituitary function and variable immunodeficiency; CVID10; immunodeficiency, common variable, with central adrenal insufficiency; NFKB2 common variable immunodeficiency; immunodeficiency, common variable, 10; immunodeficiency, common variable, type 10; common variable immunodeficiency caused by mutation in NFKB2
Definition	Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISGAOEI: Immunodeficiency, common variable, 10
Disease Identifiers	MONDO ID MONDO_0014260 UMLS CUI C3809991 OMIM ID 615577 MedGen ID 816321

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
NFKB2	TTKLNRV	Strong	Genetic Variation	[1]
NFKB2	TTKLNRV	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
NFKB2	OTS231V7	Definitive	Autosomal dominant	[2]
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References

1	Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.J Clin Endocrinol Metab. 2019 Sep 1;104(9):4051-4057. doi: 10.1210/jc.2019-00469.
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.