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 :
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