Fatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with Munc13-4 mutations: Case reports

Pediatric Hematology and Oncology

Volumn 25, Issue 3, 2008, Pages 171-180

  Nakao, Tomohei ^a   Shimizu, Takashi ^b   Fukushima, Takashi ^a   Saito, Makoto ^c   Okamoto, Miho ^c   Sugiura, Masatoshi ^d   Yamamoto, Ken ^e   Ueda, Ikuyo ^f   Imashuku, Shinsaku ^f   Kobayashi, Chie ^g   Koike, Kazutoshi ^g   Tsuchida, Masahiro ^g   Sumazaki, Ryo ^a   Matsui, Akira ^h  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b TOKAI UNIVERSITY   (Japan)

^c UNIVERSITY OF TSUKUBA HOSPITAL   (Japan)

^d KYORIN UNIVERSITY   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

^f KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^g Ibaraki Children's Hospital   (Japan)

^h NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Central nervous system lesion; Familial hemophagocytic lymphohistiocytosis; FHL3; Hemochromatosis; Munc13 4

Indexed keywords

CYCLOSPORIN; DEXAMETHASONE; ETOPOSIDE; IMMUNOGLOBULIN; MUNC13 4 PROTEIN; PREDNISOLONE; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; AUTHOR; AUTOPSY; BIRTH; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; DISEASE COURSE; FATALITY; GENE MUTATION; HEMOCHROMATOSIS; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOTHERAPY; INFANT; INTENSIVE CARE; MALE; NATURAL KILLER CELL; PROGNOSIS; REMISSION; SIBLING; SYMPTOM;

CENTRAL NERVOUS SYSTEM DISEASES; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOCHROMATOSIS; HUMANS; INFANT; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MUTATION; SIBLINGS; TRANSPLANTATION, HOMOLOGOUS;

EID: 42449143510     PISSN: 08880018     EISSN: 15210669     Source Type: Journal    
DOI: 10.1080/08880010801938082     Document Type: Article

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