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...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2009-08-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2318 |
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| author | Meryem Albayrak Zühre Kaya Ebru Yilmaz-Keskin Udo Zur Stadt Ulker Koçak Türkiz Gürsel |
| author_facet | Meryem Albayrak Zühre Kaya Ebru Yilmaz-Keskin Udo Zur Stadt Ulker Koçak Türkiz Gürsel |
| author_sort | Meryem Albayrak |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-e36a942f6e1e4721aa2d08e5b7c4a04e |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2009-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-e36a942f6e1e4721aa2d08e5b7c4a04e2025-08-20T02:55:42ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212009-08-01514Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutationMeryem Albayrak0Zühre KayaEbru Yilmaz-KeskinUdo Zur StadtUlker KoçakTürkiz GürselUnit of Pediatric Hematology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey. 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. https://turkjpediatr.org/article/view/2318 |
| spellingShingle | Meryem Albayrak Zühre Kaya Ebru Yilmaz-Keskin Udo Zur Stadt Ulker Koçak Türkiz Gürsel Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation The Turkish Journal of Pediatrics |
| title | Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation |
| title_full | Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation |
| title_fullStr | Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation |
| title_full_unstemmed | Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation |
| title_short | Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation |
| title_sort | fatal epstein barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin 11 mutation |
| url | https://turkjpediatr.org/article/view/2318 |
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