Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation.
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.
Albayrak
Meryem
M
Unit of Pediatric Hematology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey.
Kaya
Zühre
Z
Yilmaz-Keskin
Ebru
E
Stadt
Udo Zur
UZ
Koçak
Ulker
U
Gürsel
Türkiz
T
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*
D050765:Qa-SNARE Proteins; C541732:STX11 protein, human