Term Name: | common variable immunodeficiency 2 |
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Synonyms: | |
Definition: | A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. |
Ontology: | Human Disease [DOID:0081145] ( DOID:0081145 ) |