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Blood, 15 June 2006, Vol. 107, No. 12, pp. 4857-4864. Prepublished online as a Blood First Edition Paper on February 28, 2006; DOI 10.1182/blood-2005-11-4398. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-11-4398v1 107/12/4857    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 HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Fontana, S. Articles by Badolato, R. Search for Related Content PubMed PubMed Citation Articles by Fontana, S. Articles by Badolato, R. Related Collections Immunobiology Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  IMMUNOBIOLOGY Innate immunity defects in Hermansky-Pudlak type 2 syndrome Stefania Fontana, Silvia Parolini, William Vermi, Sarah Booth, Federico Gallo, Marta Donini, Marzia Benassi, Francesca Gentili, Daniela Ferrari, Lucia D. Notarangelo, Patrizia Cavadini, Emanuela Marcenaro, Stefano Dusi, Marco Cassatella, Fabio Facchetti, Gillian M. Griffiths, Alessandro Moretta, Luigi D. Notarangelo, and Raffaele Badolato From the Istituto di Medicina Molecolare "Angelo Nocivelli" and Clinica Pediatrica, University of Brescia, Italy; Dipartimento di Scienze Biomediche e Biotecnologie and Cattedra di Anatomia Patologica, University of Brescia, Italy; Sir William Dunn School of Pathology, Oxford, United Kingdom; Department of Pathology, Section of General Pathology, University of Verona, Italy; Istituto Giannina Gaslini, Genoa, Italy; and Dipartimento di Medicina Sperimentale and Centro di Eccellenza per le Ricerche Biomediche, University of Genoa, Italy. Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo proteins from the trans-Golgi and a tubular-endosomal compartment to endosome-lysosome–related organelles. Lack of the 3A subunit of this complex causes Hermansky-Pudlak syndrome type 2, an autosomal recessive disease characterized by partial albinism, prolonged bleeding tendency, and immunodeficiency. To investigate the pathogenesis of immunodeficiency, we studied natural killer (NK) cells and neutrophil functions in 2 previously unreported siblings affected by Hermansky-Pudlak type 2 syndrome. In both patients we observed a dramatic reduction of cytolytic activity of freshly isolated and of IL-2–activated NK cells. Levels of perforin were reduced in unstimulated NK cells, thereby accounting for the impairment of NK cytolitic activity. In addition, analysis of neutrophils in these patients demonstrated that intracellular elastase content was largely reduced while CD63 expression on plasma membrane was substantially increased. Taken together, these observations suggest that type 2 Hermansky-Pudlak syndrome is characterized by defects of innate immunity. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Donini, S. Fontana, G. Savoldi, W. Vermi, L. Tassone, F. Gentili, E. Zenaro, D. Ferrari, L. D. Notarangelo, F. Porta, et al. G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms Blood, June 1, 2007; 109(11): 4716 - 4723. [Abstract] [Full Text] [PDF] M. S. Horwitz, Z. Duan, B. Korkmaz, H.-H. Lee, M. E. Mealiffe, and S. J. Salipante Neutrophil elastase in cyclic and severe congenital neutropenia Blood, March 1, 2007; 109(5): 1817 - 1824. [Abstract] [Full Text] [PDF] K. Newell-Litwa, E. Seong, M. Burmeister, and V. Faundez Neuronal and non-neuronal functions of the AP-3 sorting machinery J. Cell Sci., February 15, 2007; 120(4): 531 - 541. [Abstract] [Full Text] [PDF] S. M. Di Pietro, J. M. Falcon-Perez, D. Tenza, S. R.G. Setty, M. S. Marks, G. Raposo, and E. C. Dell'Angelica BLOC-1 Interacts with BLOC-2 and the AP-3 Complex to Facilitate Protein Trafficking on Endosomes Mol. Biol. Cell, September 1, 2006; 17(9): 4027 - 4038. [Abstract] [Full Text] [PDF]

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