title: Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation.
abstract: 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-year-old 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.
authors: Unit of Pediatric Hematology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey.
authors: Meryem
authors: M
authors: Albayrak
authors: Zühre
authors: Z
authors: Kaya
authors: Ebru
authors: E
authors: Yilmaz-Keskin
authors: Udo Zur
authors: UZ
authors: Stadt
authors: Ulker
authors: U
authors: Koçak
authors: Türkiz
authors: T
authors: Gürsel
mesh_terms: D002648:Child; D003241:Consanguinity; D020031:Epstein-Barr Virus Infections / Q000150:complications* / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000188:drug therapy / Q000235:genetics* / Q000821:virology*; D008297:Male; D011379:Prognosis; D050765:Qa-SNARE Proteins / Q000235:genetics*
chemical_list: D050765:Qa-SNARE Proteins; C541732:STX11 protein, human