- databases for immunodeficiency-causing mutations

   STX11base
   Mutation registry for  Familial haemophagocytic lymphohistiocytosis 4


STX11base mutation publications

[2010] [2007] [2006] [2005]

Search PubMed latest citations for STX11 mutations

    2010

  • Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.
    Danielian S, Basile N, Rocco C, Prieto E, Rossi J, Barsotti D, Roche PA, Bernasconi A, Oleastro M, Zelazko M, Braier J
    J Clin Immunol 2010(2): 330-7 [PubMed abstract].

    2007

  • Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
    Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG
    Blood 2007(6): 1906-15 [PubMed abstract].

    2006

  • Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.
    Rudd E, Göransdotter Ericson K, Zheng C, Uysal Z, Ozkan A, Gürgey A, Fadeel B, Nordenskjöld M, Henter JI
    J Med Genet 2006(4): e14 [PubMed abstract].

    2005

  • Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
    zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC
    Hum Mol Genet 2005(6): 827-34 [PubMed abstract].

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