Conditions / Genetic
common variable immunodeficiency 14
info · Genetic
A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.
Signs and symptoms
- Decreased circulating IgM concentration
- Decreased specific antibody response to vaccination
- Combined immunodeficiency
- Recurrent sinusitis
- Decreased circulating IgA concentration
- Decreased circulating IgG concentration
- Decreased class-switched memory B cell proportion
- Defective B cell differentiation
- Psoriasiform dermatitis
- Chronic diarrhea