title: Prolonged course of familial hemophagocytic lymphohistiocytosis.
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.
authors.affiliation: Department of Pediatrics A, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.
authors.forename: Orna
authors.initials: O
authors.lastname: Steinberg
authors.forename: Joanne
authors.initials: J
authors.lastname: Yacobovich
authors.forename: Orly
authors.initials: O
authors.lastname: Dgany
authors.forename: Yona
authors.initials: Y
authors.lastname: Kodman
authors.forename: Gilat
authors.initials: G
authors.lastname: Livni
authors.forename: Avinoam
authors.initials: A
authors.lastname: Rachmel
authors.forename: Jerry
authors.initials: J
authors.lastname: Stein
authors.forename: Isaac
authors.initials: I
authors.lastname: Yaniv
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage*; D016026:Bone Marrow Transplantation; D002648:Child; D006720:Homozygote; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics / Q000628:therapy*; D008297:Male; D009154:Mutation; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics; D013997:Time Factors; D014184:Transplantation, Homologous
chemical_list: C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin