The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 4
Fatal Epstein-Barr Virus Infection in a Case of Familial
Hemophagocytic Lymphohistiocytosis with Syntaxin-11
Mutation
1Unit of Pediatric Hematology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey, and
2Department of Pediatric Hematology-Oncology, University Medical Center Hamburg, Eppendorf Research Institute,
Children’s Cancer Center, Hamburg, Germany
Familial hemophagocytic lymphohistiocytosis (FHL) is a fatal disease of early
infancy caused by defective natural killer cell activity and is characterized
by fever, organomegaly, pancytopenia, and coagulopathy. Disease-causing
mutations have been found in perforin, Munc 13-4 and syntaxin-11 genes. We
herein describe a case of late-onset FHL with syntaxin-11 mutation in a six-yearold
boy in whom only partial response was obtained by immunochemotherapy
(HLH-94 protocol) and who died with persistent Epstein-Barr virus (EBV)
infection. The role of EBV infection in the prognosis of FHL is discussed.
Keywords :