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Blood, 1 July 2006, Vol. 108, No. 1, pp. 81-87. Prepublished online as a Blood First Edition Paper on March 21, 2006; DOI 10.1182/blood-2005-11-4413. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-11-4413v1 108/1/81    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 Citing Articles via Google Scholar Google Scholar Articles by Enders, A. Articles by Ehl, S. Search for Related Content PubMed PubMed Citation Articles by Enders, A. Articles by Ehl, S. Related Collections Transplantation Clinical Trials and Observations Hemostasis, Thrombosis, and Vascular Biology Immunobiology Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II Anselm Enders, Barbara Zieger, Klaus Schwarz, Ayami Yoshimi, Carsten Speckmann, Eva-Maria Knoepfle, Udo Kontny, Christoph Müller, Alan Nurden, Jan Rohr, Matthias Henschen, Ulrich Pannicke, Charlotte Niemeyer, Paquita Nurden, and Stephan Ehl From the Center for Pediatrics and Adolescent Medicine, University of Freiburg, Germany; Transfusion Medicine, University Hospital and Institute for Clinical Transfusion Medicine and Immunogenetics, Ulm, Germany; the Children's Hospital Villingen, Städtisches Klinikum Villingen-Schwenningen, Germany; and Institut Fédératif de Recherche des Neurosciences, no. 4-Centre de Recherche Paul-Pascal (IFRN°4/CRPP), Centre Hospitalier Universitaire de Bordeaux, France. Griscelli syndrome (GS) was diagnosed in a 2-year-old patient with oculocutaneous albinism and immunodeficiency, but sequencing of RAB27a revealed only a heterozygous mutation. Due to impaired natural killer (NK) and T-cell cytotoxicity implying a high risk of developing hemophagocytic lymphohistiocytosis (HLH), he was prepared for hematopoietic stem cell transplantation (HSCT). Unexpectedly, a severe bleeding episode occurred that led to the demonstration of disturbed platelet aggregation, reduced plateletdense granules, and impaired platelet degranulation. In combination with neutropenia, this suggested the diagnosis of Hermansky-Pudlak syndrome type II (HPSII) and a novel homozygous mutation in AP3B1 was detected. None of the 3 reported HPSII patients had developed HLH, and our patient seroconverted to Epstein-Barr virus (EBV) without clinical symptoms. HSCT was therefore withheld, and granulocyte-colony-stimulating factor (G-CSF) therapy was initiated and prevented further bacterial infections. At 3 years of age, however, the patient developed, without an obvious trigger, fulminant HLH that was resistant to therapy. This patient shows that careful clinical and molecular diagnosis is essential to differentiate the complex disorders of lysosomal trafficking. HPSII belongs to the group of familial hemophagocytic syndromes and may represent an indication for HSCT. (Blood. 2006;108:81-87) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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