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common variable immunodeficiency 2
Summary
- 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.
- Super Class
- autosomal dominant disease common variable immunodeficiency
External Links
- Disease Ontology
- DOID:0081145
- Mondo Disease Ontology
- OMIM
