common variable immunodeficiency 3

Summary
Definition
A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2.
Super Class
common variable immunodeficiency
Disease Ontology
DOID:0081146
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
930 CD19 CD19 molecule
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P15391 B-lymphocyte antigen CD19

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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 8, 2025