common variable immunodeficiency 2

Term ID

DOID:0081145

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. https://pubmed.ncbi.nlm.nih.gov/16007087/

References

• OMIM:240500

Ontology

Human Disease   ( DOID:0081145 )