familial hemophagocytic lymphohistiocytosis 2

A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1.

Signs and symptoms

• Increased total bilirubin
• Hepatomegaly
• Ataxia
• Abnormal natural killer cell physiology
• Increased intracranial pressure
• Elevated circulating hepatic transaminase concentration
• CNS demyelination
• Recurrent fever
• Increased CSF protein concentration
• Hepatosplenomegaly

Also known as: FHL2; HLH2; HPLH2