Familial hemophagocytic lymphohistiocytosis with the MUNC13-4 mutation: A case report

European Journal of Pediatrics

Volumn 165, Issue 6, 2006, Pages 384-388

  Mizumoto, Hiroshi ^a   Hata, Daisuke ^a   Yamamoto, Ken ^b   Shirakawa, Ryutaro ^c   Kumakura, Akira ^a   Shiota, Mitsutaka ^a   Yokoyama, Atsushi ^c   Matsubara, Hiroshi ^c   Kobayashi, Michihiro ^c   Nishikomori, Ryuta ^c   Adachi, Soichi ^c   Nakahata, Tatsutoshi ^c   Kita, Toru ^c   Horiuchi, Hisanori ^c   Yasukawa, Masaki ^d   Ishii, Eiichi ^e  

^a Kitano Hospital   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c KYOTO UNIVERSITY   (Japan)

^d EHIME UNIVERSITY   (Japan)

^e SAGA UNIVERSITY   (Japan)

Author keywords

Central nervous system complication; Familial hemophagocytic lymphohistiocytosis; MUNC13 4; Stem cell transplantation

Indexed keywords

BUSULFAN; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; DEXAMETHASONE; ETOPOSIDE; GENE PRODUCT; HEMOGLOBIN; METHOTREXATE; METHYLPREDNISOLONE; PREDNISOLONE; PROTEIN MUNC13 4; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CEREBROSPINAL FLUID ANALYSIS; CORD BLOOD STEM CELL TRANSPLANTATION; CORTICOSTEROID THERAPY; FEEDING DISORDER; FEVER; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HETEROZYGOSITY; HUMAN; HYPERFERRITINEMIA; HYPERTRIGLYCERIDEMIA; IMMUNOTHERAPY; INFANT; LYMPHOCYTOSIS; MALE; MENTAL DEFICIENCY; PHENOTYPE; PLEOCYTOSIS; PRIORITY JOURNAL; REMISSION; STOP CODON; THROMBOCYTOPENIA; WESTERN BLOTTING;

CD8-POSITIVE T-LYMPHOCYTES; CYTOTOXICITY, IMMUNOLOGIC; HEMATOPOIETIC CELL GROWTH FACTORS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS;

EID: 33646485093     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-005-0065-0     Document Type: Article

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