Conditions / Genetic

agammaglobulinemia 2

info ยท Genetic

An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11.

Signs and symptoms

  • Decreased circulating IgM concentration
  • Absent circulating B cells
  • Recurrent otitis media
  • Decreased circulating IgA concentration
  • Meningitis
  • Agammaglobulinemia
  • Recurrent bacterial infections
  • Recurrent pneumonia
  • Recurrent respiratory infections
  • Abnormal T cell morphology