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SYNDROME D'ACTIVATION MACROPHAGIQUE CHEZ L ... - Toubkal

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[153] J.L. StéphanSyndromes hkmophagocytaires et deficits immunitaires primitifsHemophagocytic syndromes and primary immunodeficiencyArchives de pédiatrie 2003; 10: 517-520[154] K. Zhang, A. H Filipovich, J. Johnson, R. A Marsh, J. VillanuevaHemophagocytic Lymphohistiocytosis, Familial2010, University of Washington[155] Ohadi M, Lalloz MR, Sham P, Zhao J, Dearlove AM, Shiach C, et al.Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome9q21.3-22 by homozygosity mapping.Am J Hum Genet 1999; 64 : 165-7 1[156] Voskoboinik I, Thia MC, De Bono A, Browne K, Cretney E et al.The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inheritedmissense mutations in the perforin (PFN1) gene.J Exp Med. 2004; 200: 811–6.[157] Lee SM, Sumegi J, Villanueva J, Tabata Y, Zhang K et al.Patients of African ancestry with hemophagocytic lymphohistiocytosis share a commonhaplotype of PRF1 with a 50delT mutation.J Pediatr. 2006; 149: 134–7.[158] Goransdotter Ericson K., Fadeel B., Nilsson-Ardnor S. et al.Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosisAm. J. Hum. Genet. 2001; 68: 590-597[159] Feldmann J., Le Deist F., Ouachee-Chardin M., Certain S. et al.Functional consequences of perforin gene mutations in 22 patients with familialhaemophagocytic lymphohistiocytosisBr. J. Haematol. 2002; 117: 965-972[160] Zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI et al.Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24and identification of mutations in syntaxin 11.Hum Mol Genet. 2005; 14: 827–34.[161] Feldmann J., Callebaut I., Raposo G., Certain S., Bacq D. et al.Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familialhemophagocytic lymphohistiocytosis (FHL3)Cell 2003; 115: 461-473215

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