Prolonged course of familial hemophagocytic lymphohistiocytosis.
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.
Steinberg
Orna
O
Department of Pediatrics A, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.
Yacobovich
Joanne
J
Dgany
Orly
O
Kodman
Yona
Y
Livni
Gilat
G
Rachmel
Avinoam
A
Stein
Jerry
J
Yaniv
Isaac
I
Tamary
Hannah
H
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
C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin