Conditions / Genetic
common variable immunodeficiency 2
info · Genetic
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.
Signs and symptoms
- Recurrent bronchitis
- Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide
- Combined immunodeficiency
- Recurrent sinusitis
- Recurrent otitis media
- Decreased circulating IgA concentration
- Decreased circulating IgG concentration
- Autoimmunity
- Neoplasm
- Hepatomegaly