FATAL SIBLING CASES OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (FHL) WITH MUNC13-4 MUTATIONS: Case Reports

The authors report here sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) type 3 that took fatal courses despite intensive treatment. The older brother achieved remission by immunochemotherapy, but a central nervous system lesion occurred before the introduction of allogeneic hemato...

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Veröffentlicht in:	Pediatric hematology and oncology 2008-01, Vol.25 (3), p.171-180
Hauptverfasser:	Nakao, Tomohei, Shimizu, Takashi, Fukushima, Takashi, Saito, Makoto, Okamoto, Miho, Sugiura, Masatoshi, Yamamoto, Ken, Ueda, Ikuyo, Imashuku, Shinsaku, Kobayashi, Chie, Koike, Kazutoshi, Tsuchida, Masahiro, Sumazaki, Ryo, Matsui, Akira
Format:	Artikel
Sprache:	eng
Schlagworte:	Central Nervous System Diseases - diagnosis Central Nervous System Diseases - etiology Central Nervous System Diseases - genetics Central Nervous System Diseases - pathology Central Nervous System Diseases - therapy central nervous system lesion Diagnosis, Differential familial hemophagocytic lymphohistiocytosis Fatal Outcome FHL3, hemochromatosis Hematopoietic Stem Cell Transplantation Hemochromatosis - diagnosis Hemochromatosis - genetics Hemochromatosis - pathology Hemochromatosis - therapy Humans Infant Infant, Newborn Lymphohistiocytosis, Hemophagocytic - complications Lymphohistiocytosis, Hemophagocytic - diagnosis Lymphohistiocytosis, Hemophagocytic - genetics Lymphohistiocytosis, Hemophagocytic - therapy Male Membrane Proteins - genetics Munc13-4 Mutation Siblings Transplantation, Homologous
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