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Blood, 2 July 2009, Vol. 114, No. 1, pp. 211-218. Prepublished online as a Blood First Edition Paper on April 29, 2009; DOI 10.1182/blood-2009-02-207845. This Article Full Text (PDF) Supplemental Figure All Versions of this Article: blood-2009-02-207845v1 114/1/211    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Pachlopnik Schmid, J. Articles by Fischer, A. Search for Related Content PubMed PubMed Citation Articles by Pachlopnik Schmid, J. Articles by Fischer, A. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted February 26, 2009 Accepted April 18, 2009 Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients Jana Pachlopnik Schmid, Despina Moshous, Nathalie Boddaert, Benedicte Neven, Liliane Dal Cortivo, Marc Tardieu, Marina Cavazzana-Calvo, Stephane Blanche, Genevieve de Saint Basile, and Alain Fischer* Institut National de la Sante et de la Recherche Medicale, Unite U768, Laboratoire du Developpement Normal et Pathologique du Systeme Immunitaire, Paris, France Universite Paris Descartes, Faculte de Medecine de l'Universite Rene Descartes, Institut Federatif de Recherche Necker Enfants-Malades (IFR94), Paris, France Assistance Publique-Hopitaux de Paris, Hopital Necker Enfants-Malades, Service de Radiologie Pediatrique, INSERM U797, Paris, France Assistance Publique-Hopitaux de Paris, Hopital Necker Enfants-Malades, Unite d'Immunologie et Hematologie Pediatrique, Paris, France Assistance Publique-Hopitaux de Paris, Hopital Necker-Enfants Malades, Departement de Biotherapie, Paris, France Assistance Publique-Hopitaux de Paris, Hopital Bicetre, Service de Neurologie Pediatrique, Paris, France * Corresponding author; email: alain.fischer{at}nck.ap-hop-paris.fr. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for Griscelli syndrome type 2, an inherited immune disorder causing fatal hemophagocytic lymphohistiocytosis (HLH). Optimal therapeutic modalities are not yet well known. We retrospectively analyzed the outcome for 10 patients who underwent HSCT in a single center between 1996 and 2008. Seven patients (70%) were cured of the primary immune defect (mean follow-up: 5.2 years (range: 0.8 - 12.0)), 4 of them without neurological sequelae. In the 3 deceased patients, death occurred within 110 days of HSCT and was probably due to adverse reaction to HSCT in 2 patients and to HLH relapse in 1 patient. One patient received 2 transplants because of graft failure with HLH relapse. Clinical events included veno-occlusive disease (n=5), acute (n=7) or chronic (n=1) graft-versus-host disease II-III° and Epstein-Barr virus-induced lymphoproliferative disease (n=2). Of the 7 patients with neurological involvement prior to HSCT, 4 survived and 2 presented sequelae. Furthermore, 1 patient lacking neurological involvement prior to HSCT, developed long-term sequelae. These results demonstrate the efficacy of HSCT in curing the immune disorder but also show that neurological HLH prior to HSCT is a major factor, given the neurological sequelae after otherwise successful HSCT. Additional studies are required to improve treatment. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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