Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0081145 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models