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Genotype-phenotype study of familial hemophagocytic lymphohistiocytosis TYPE 3
Elena Sieni, Valentina Cetica, Alessandra Santoro, Karin Beutel, Elena Mastrodicasa, Marie Meeths, Benedetta Ciambotti, Francesca Brugnolo, Udo zur Stadt, Daniela Pende, LorenzoMoretta, Gillian M. Griffiths, Jan-Inge Henter, Gritta Janka, Maurizio Aricò
J Med Genet., in press
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, Zur Stadt U, Ehl S.
Haematologica. 2010 Dec;95(12):2080-7. Epub 2010 Sep 7.
STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M.
J Med Genet. 2010 Sep;47(9):595-600.
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. (pdf, 330 kB)
Pachlopnik Schmid J, Moshous D, Boddaert N, Neven B, Dal Cortivo L, Tardieu M, Cavazzana-Calvo M, Blanche S, de Saint Basile G, Fischer A. Blood, 2009; 114:211-8.
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.
Wood SM, Meeths M, Chiang SC, Bechensteen AG, Boelens JJ, Heilmann C, Horiuchi H, Rosthøj S, Rutynowska O, Winiarski J, Stow JL, Nordenskjöld M, Henter JI, Ljunggren HG, Bryceson YT.Blood. 2009 Nov 5;114(19):4117-27. Epub 2009 Aug 24.
Neutralization of IFN# defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice (pdf, 1,3MB)
Published on 04/05/09 by Jana Pachlopnik Schmid, Chen-H. Ho, Fabrice Chrétien, Juliette M. Lefebvre, Gérard Pivert, Marie Kosco-Vilbois, Walter Ferlin, Frédéric Geissmann, Alain Fischer, Geneviève de Saint Basile
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). Pachlopnik Schmid J, Ho CH, Diana J, Pivert G, Lehuen A, Geissmann F, Fischer A, de Saint Basile G. Eur J Immunol. 2008 Nov;38(11):3219-25.
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