Conditions / Genetic

familial hemophagocytic lymphohistiocytosis 5

info · Genetic

A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2.

Signs and symptoms

  • Decreased circulating immunoglobulin concentration
  • Colitis
  • Recurrent sinusitis
  • Anemia
  • Low-frequency sensorineural hearing impairment
  • Abnormal pulmonary interstitial morphology
  • Lymphadenopathy
  • Fever
  • Recurrent upper respiratory tract infections
  • Thrombocytopenia

Also known as: FHL5; HLH5; HPLH5