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This Article Full Text Full Text (PDF) 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 Notarangelo, L. D. Articles by Notarangelo, L. D. Search for Related Content PubMed PubMed Citation Articles by Notarangelo, L. D. Articles by Notarangelo, L. D. Related Collections Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 March 2002, Vol. 99, No. 6, pp. 2268-2269 BRIEF REPORT Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia Lucia D. Notarangelo, Cinzia Mazza, Silvia Giliani, Chiara D'Aria, Francesca Gandellini, Chiara Ravelli, Maria Grazia Locatelli, David L. Nelson, Hans D. Ochs, and Luigi D. Notarangelo From the Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia; the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD; and the Department of Pediatrics, University of Washington, Seattle. Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. We report herewith 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other major clinical features, and carried missense mutations of the WASP gene that allowed substantial protein expression. This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number. © 2002 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Bosticardo, F. Marangoni, A. Aiuti, A. Villa, and M. Grazia Roncarolo Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome Blood, June 18, 2009; 113(25): 6288 - 6295. [Abstract] [Full Text] [PDF] S. Trifari, G. Sitia, A. Aiuti, S. Scaramuzza, F. Marangoni, L. G. Guidotti, S. Martino, P. Saracco, L. D. Notarangelo, M.-G. Roncarolo, et al. Defective Th1 Cytokine Gene Transcription in CD4+ and CD8+ T Cells from Wiskott-Aldrich Syndrome Patients J. Immunol., November 15, 2006; 177(10): 7451 - 7461. [Abstract] [Full Text] [PDF] M. I. Lutskiy, F. S. Rosen, and E. Remold-O'Donnell Genotype-Proteotype Linkage in the Wiskott-Aldrich Syndrome J. Immunol., July 15, 2005; 175(2): 1329 - 1336. [Abstract] [Full Text] [PDF] Y. Jin, C. Mazza, J. R. Christie, S. Giliani, M. Fiorini, P. Mella, F. Gandellini, D. M. Stewart, Q. Zhu, D. L. Nelson, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation Blood, December 15, 2004; 104(13): 4010 - 4019. [Abstract] [Full Text] [PDF] S. Burns, G. O. Cory, W. Vainchenker, and A. J. Thrasher Mechanisms of WASp-mediated hematologic and immunologic disease Blood, December 1, 2004; 104(12): 3454 - 3462. [Abstract] [Full Text] [PDF] M. S. Lim and K. S.J. Elenitoba-Johnson The Molecular Pathology of Primary Immunodeficiencies J. Mol. Diagn., May 1, 2004; 6(2): 59 - 83. [Full Text] [PDF]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020