common variable immunodeficiency 4

Term ID

DOID:0081147

Synonyms

Definition

A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/19666484/

References

• OMIM:613494

Ontology

Human Disease   ( DOID:0081147 )