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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 (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 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 HighWire 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. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted November 8, 2005 Accepted February 22, 2006 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 Muller, Alan Nurden, Jan Rohr, Matthias Henschen, Ulrich Pannicke, Charlotte Niemeyer, Paquita Nurden, and Stephan Ehl* Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany Transfusion Medicine, University Hospital and Institute for Clinical Transfusion Medicine and Immunogenetics, Ulm, Germany Children's Hospital Villingen, Stadtisches Klinikum Villingen-Schwenningen, Villingen-Schwenningen, Germany IFRN4/CRPP, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France * Corresponding author; email: stephan.ehl{at}uniklinik-freiburg.de. Griscelli syndrome (GS) was diagnosed in a 2-year old patient with oculocutaneous albinism and immunodeficiency, but sequencing of RAB27a only revealed a heterozygous mutation. Due to impaired NK and T cell cytotoxicity implying a high risk of developing hemophagocytic lymphohistiocytosis (HLH), he was prepared for hematopoetic stem cell transplantation (HSCT). Unexpectedly, a severe bleeding episode occurred that led to the demonstration of disturbed platelet aggregation, reduced platelet dense 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 three reported HPSII patients had developed HLH and our patient seroconverted to EBV without clinical symptoms. HSCT was therefore withheld, G-CSF therapy was initiated and prevented further bacterial infections. At three years of age, however, the patient developed fulminant HLH without an obvious trigger 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Speckmann, U. Pannicke, E. Wiech, K. Schwarz, P. Fisch, W. Friedrich, T. Niehues, K. Gilmour, K. Buiting, M. Schlesier, et al. Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency Blood, November 15, 2008; 112(10): 4090 - 4097. [Abstract] [Full Text] [PDF]

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