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噬血细胞综合征的分子生物学基础及其发病机制 被引量:11

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作者 汤永民 廖婵
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2006年第9期513-516,共4页 Journal of Applied Clinical Pediatrics
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  • 1Menasche G, Feldmann J, Fischer A, et al. Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis[J ]. Immunol Rev, 2005,203 : 165 - 179.
  • 2Ohadi M, Lalloz MR, Sham P, et al. Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3 22 by homozygosity mapping[ J ]. Am J Hum Genet, 1999, 64 ( 1 ) : 165-171.
  • 3Stepp SE,Dufourcq-Lagelouse R, le Deist F, et al. Perforin gene defects in familial hemophogocytic lymphohistiocytosis [J ]. Science, 1999,286(5446) :1957 - 1959.
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  • 5Zur Satdt U.Beutel K.Kolberg S,et al.Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis:molecular and functional analyses of PRF1,UNC13D,STX11,and RAB27A[J].Hum Mutat,2006,27(1):62-68.
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  • 7Feldmann J, Callebaut I, Raposo G, et al. Muncl3-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis ( FHL3 ) [ J ]. Cell, 2003, 115(4) :461 - 473.
  • 8Yamamoto K, Ishii E, Sako M, et al. Identification of novel MUNC 13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4 deficient cytotoxic T lymphocytes[J],J Med Genet,2004,41(10):763-776.
  • 9Zur Stadt U, Schmidt S, Kasper B, et al. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type - 4 to chromosomc 6q24 and identification of mutations in syntaxin 11 [J ].Hum Mol Genet ,2005,14(6) :827 - 834.
  • 10Yamamoto K, Ishii E, Horiuchi H, et al. Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people[J ]. J Hum Genet, 2005,50( 11 ) :600-603.

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