Conditions / Genetic

common variable immunodeficiency 1

info · Genetic

A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33.

Signs and symptoms

  • Decreased class-switched memory B cell proportion
  • Decreased total B cell count
  • Recurrent bacterial infections
  • Decreased circulating IgA concentration
  • Decreased circulating IgG concentration
  • Diarrhea
  • Bronchiectasis
  • Hepatomegaly
  • Pneumonia
  • Abnormal T cell physiology