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

[162] Rudd E., Goransdotter Ericson K., Zheng C., Uysal Z. and al.Spectrum and clinical implications of syntaxin 11 gene mutations in familialhaemophagocytic lymphohistiocytosis: association with disease-free remissions andhaematopoietic malignanciesJ. Med. Genet. 2006; 43: e14[163] Introne W, Boissy RE, Gahl WA.Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.Mol Genet Metab. 1999; 68: 283–303.[164] Shibutani T, Gen K, Shibata M, Horiguchi Y, Kondo N, Iwayama Y.Long-term follow-up of periodontitis in a patient with Chediak-Higashi syndrome. A casereport.J Periodontol. 2000; 71: 1024–8.[165] Bailleul-Forestier I, Monod-Broca J, Benkerrou M, Mora F, Picard BGeneralized periodontitis associated with Chediak-Higashi syndrome.J Periodontol. 2008; 79: 1263–70.[166] Shiflett S.L., Kaplan J., Ward D.M.Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organellesPigment Cell Res. 2002; 15: 251-257[167]: Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, et al.Partial albinism with immunodeficiency (Griscelli syndrome)J. Pediatr, 1994, 125, 886- 895.[168] F Schuster, DK Stachel, I Schmid, FAM Baumeister and alGriscelli syndrome: report of the first peripheral blood stem cell transplant and the role ofmutations in the RAB27A gene as an indication for BMTBone Marrow Transplantation (2001) 28, 409–412[169]Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S et al.Griscelli disease maps to chromosome 15q21 and is associated with mutations in themyosin-Va gene.Nat Genet 1997; 16: 289-92.[170] Bizario J.C., Feldmann J., Castro F.A., Menasche G., Jacob C.M. et al.Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity byretroviral transfer of RAB27A geneJ. Clin. Immunol. 2004; 24: 397-410216