Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation.

Albayrak M., Kaya Z., Yilmaz-Keskin E., Stadt U. Z., KOÇAK Ü., Gursel T.

The Turkish journal of pediatrics, vol.51, no.4, pp.371-4, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 4
  • Publication Date: 2009
  • Journal Name: The Turkish journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.371-4
  • Keywords: familial hemophagocytic lymphohistiocytosis, syntaxin-11 mutation, Epstein-Barr virus, child, PERFORIN MUTATIONS, TURKISH CHILDREN, IMMUNOCHEMOTHERAPY
  • Gazi University Affiliated: Yes

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.