Conditions / Genetic
common variable immunodeficiency 4
info · Genetic
A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13.
Signs and symptoms
- Decreased circulating IgM concentration
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide
- Combined immunodeficiency
- Recurrent pneumonia
- Decreased circulating IgG concentration
- Recurrent bacterial infections
- Recurrent sinusitis
- Abnormal total T cell number