Conditions / Immune

immunodeficiency 82

info ยท Immune

A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and tha

A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22.

Signs and symptoms

  • Decreased circulating total IgG concentration
  • Diarrhea
  • Colitis
  • Decreased circulating IgM concentration
  • Lymphadenopathy
  • Weight loss
  • Chronic decreased circulating IgA concentration
  • Elevated circulating C-reactive protein concentration
  • Recurrent fever
  • Skin rash

Also known as: immunodeficiency 82 with systemic inflammation