Conditions / Genetic

autoimmune lymphoproliferative syndrome type 3

info · Genetic

An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21.

Signs and symptoms

  • Nephrotic syndrome
  • Recurrent lower respiratory tract infections
  • Persistent EBV viremia
  • Antinuclear antibody positivity
  • Hepatomegaly
  • Decreased memory B cell proportion
  • Absent circulating isohemagglutinin
  • Increased circulating immunoglobulin concentration
  • Elevated circulating alanine aminotransferase concentration
  • Increased CD21low B cell proportion

Also known as: ALPS3; autoimmune lymphoproliferative syndrome type III