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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

MIM:240500

Parent Relationships

is_a common variable immunodeficiency

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

has material basis in some autosomal recessive inheritance

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