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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 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 Citation Map 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 Google Scholar Articles by Pachlopnik Schmid, J. Articles by Fischer, A. PubMed PubMed Citation Articles by Pachlopnik Schmid, J. Articles by Fischer, A. Related Collections Transplantation Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  TRANSPLANTATION Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients Jana Pachlopnik Schmid13, Despina Moshous13, Nathalie Boddaert4, Bénédicte Neven13, Liliane Dal Cortivo5, Marc Tardieu6, Marina Cavazzana-Calvo3,5, Stéphane Blanche3, Geneviève de Saint Basile13, and Alain Fischer13 1 Inserm, Unité U768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Paris; 2 Université Paris Descartes, Faculté de Médecine de l'Université René Descartes, Institut Fédératif de Recherche Necker Enfants-Malades (IFR94), Paris; 3 Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Necker Enfants-Malades, Unité d'Immunologie et Hématologie Pédiatrique, Paris; 4 AP-HP, Hôpital Necker Enfants-Malades, Service de Radiologie Pédiatrique, Inserm U797, Paris; 5 AP-HP, Hôpital Necker-Enfants Malades, Département de Biothérapie, Paris; and 6 AP-HP, Hôpital Bicêtre, Service de Neurologie Pédiatrique, Paris, France 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 years), 4 of them without neurologic 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 one patient. One patient received 2 transplants because of graft failure. 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 neurologic involvement before HSCT, 4 survived and 2 presented sequelae. Furthermore, 1 patient lacking neurologic involvement before HSCT developed long-term sequelae. These results demonstrate the efficacy of HSCT in curing the immune disorder but also show that neurologic HLH before HSCT is a major factor, given the neurologic 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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