common variable immunodeficiency 12

Summary
Definition
A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.
Super Class
common variable immunodeficiency
Disease Ontology
DOID:0081154
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4790 NFKB1 nuclear factor kappa B subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18033 Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024