Related Experiment Video
Updated: Aug 12, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Gene abnormalities in patients with hemophagocytic lymphohistiocytosis
Eyal Grunebaum1, Chaim M Roifman
1Division of Immunology, Program of Infection, Immunity, Injury and Repair, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Hemophagocytic lymphohistiocytosis is thought to occur as a primary (familial) form or secondary to infection or malignancy. Recently, several defects in genes important for immune functions were identified in patients with HLH. These include mutations in perforin, the gamma common chain of the receptor for interleukin-2, Slap and purine nucleoside phosphorylase. Since abnormal function of these genes is associated with a wide clinical spectrum, HLH is probably another manifestation of immune deficiency and a thorough immune evaluation should be done in all such patients.
Hemophagocytic lymphohistiocytosis is thought to occur as a primary (familial) form or secondary to infection or malignancy. Recently, several defects in genes important for immune functions were identified in patients with HLH. These include mutations in perforin, the gamma common chain of the receptor for interleukin-2, Slap and purine nucleoside phosphorylase. Since abnormal function of these genes is associated with a wide clinical spectrum, HLH is probably another manifestation of immune deficiency and a thorough immune evaluation should be done in all such patients.
