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  • Title: Prolonged course of familial hemophagocytic lymphohistiocytosis.
    Author: Steinberg O, Yacobovich J, Dgany O, Kodman Y, Livni G, Rachmel A, Stein J, Yaniv I, Tamary H.
    Journal: J Pediatr Hematol Oncol; 2006 Dec; 28(12):831-3. PubMed ID: 17164654.
    Abstract:
    Familial hemophagocytic lymphohistiocytosis is usually diagnosed in the first 2 years of life and, if untreated, is rapidly fatal. We describe a 10-year-old boy with a 9-year history of prolonged fever and progressive hepatosplenomegaly who was diagnosed as having hemophagocytic lymphohistiocytosis 2, being homozygote to a previously described mutation in the PRF1 gene, and cured by the HLH-2004 protocol and allogenic bone marrow transplantation. This unique case emphasizes the heterogeneity of this disease and the diversity of its clinical presentations.
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