Conditions / Immune

familial hemophagocytic lymphohistiocytosis 3

info ยท Immune

A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1.

Signs and symptoms

  • Abnormal natural killer cell physiology
  • Anemia
  • Decreased total granulocyte count
  • Hypertriglyceridemia
  • Hypofibrinogenemia
  • Hemophagocytosis
  • Fever
  • Hepatosplenomegaly

Also known as: FHL3; HLH3; HPLH3