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Blood, 18 June 2009, Vol. 113, No. 25, pp. 6288-6295. Prepublished online as a Blood First Edition Paper on April 7, 2009; DOI 10.1182/blood-2008-12-115253. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2008-12-115253v1 113/25/6288    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 Google Scholar Articles by Bosticardo, M. Articles by Grazia Roncarolo, M. PubMed PubMed Citation Articles by Bosticardo, M. Articles by Grazia Roncarolo, M. Related Collections Immunobiology Review Articles Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  REVIEW ARTICLE Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome Marita Bosticardo1,2, Francesco Marangoni1, Alessandro Aiuti2,3, Anna Villa1,4, and Maria Grazia Roncarolo1,2 1 San Raffaele Telethon Institute for Gene Therapy, Milan; 2 Università Vita-Salute San Raffaele, Milan; 3 University of Rome Tor Vergata, Rome; and 4 Consiglio Nazionale delle Ricerche-Istituto Tecnologie Biomediche, Segrate, Milan, Italy Wiskott-Aldrich syndrome (WAS) is a severe X-linked immunodeficiency caused by mutations in the gene encoding for WASP, a key regulator of signaling and cytoskeletal reorganization in hematopoietic cells. Mutations in WASP result in a wide spectrum of clinical manifestations ranging from the relatively mild X-linked thrombocytopenia to the classic full-blown WAS phenotype characterized by thrombocytopenia, immunodeficiency, eczema, and high susceptibility to developing tumors and autoimmune manifestations. The life expectancy of patients affected by severe WAS is reduced, unless they are successfully cured by bone marrow transplantation from related identical or matched unrelated donors. Because many patients lack a compatible bone marrow donor, the administration of WAS gene–corrected autologous hematopoietic stem cells could represent an alternative therapeutic approach. In the present review, we focus on recent progress in understanding the molecular and cellular mechanisms contributing to the pathophysiology of WAS. Although molecular and cellular studies have extensively analyzed the mechanisms leading to defects in T, B, and dendritic cells, the basis of autoimmunity and thrombocytopenia still remains poorly understood. A full understanding of these mechanisms is still needed to further implement new therapeutic strategies for this peculiar immunodeficiency. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Klein Molecular basis of congenital neutropenia Haematologica, October 1, 2009; 94(10): 1333 - 1336. [Full Text] [PDF]

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