Metadata | |
---|---|
ID | DOID:0081145 |
Name | common variable immunodeficiency 2 |
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/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |