Term Name: | common variable immunodeficiency 4 |
---|---|
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. |
Ontology: | Human Disease [DOID:0081147] ( DOID:0081147 ) |