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Blood, 15 December 2004, Vol. 104, No. 13, pp. 4010-4019. Prepublished online as a Blood First Edition Paper on July 29, 2004; DOI 10.1182/blood-2003-05-1592. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-05-1592v1 104/13/4010    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 Jin, Y. Articles by Ochs, H. D. Search for Related Content PubMed PubMed Citation Articles by Jin, Y. Articles by Ochs, H. D. Related Collections Immunobiology Signal Transduction Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  IMMUNOBIOLOGY Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation Yinzhu Jin, Cinzia Mazza, Jacinda R. Christie, Silvia Giliani, Maurilia Fiorini, Patrizia Mella, Francesca Gandellini, Donn M. Stewart, Qili Zhu, David L. Nelson, Luigi D. Notarangelo, and Hans D. Ochs From the Department of Pediatrics, University of Washington, Seattle; the Istituto di Medicina Molecolare "Angelo Nocivelli," Department of Pediatrics, University of Brescia, Brescia, Italy; and the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. X-linked thrombocytopenia (XLT) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia. WAS and XLT are caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene which encodes a 502-amino acid protein, named WASP. WASP is thought to play a role in actin cytoskeleton organization and cell signaling. Here, we report the identification of 141 unique mutations, 71 not previously reported, from 227 WAS/XLT families with a total of 262 affected members. When possible we studied the effects of these mutations on transcription, RNA splicing, and protein expression. By analyzing a large number of patients with WAS/XLT at the molecular level we identified 5 mutational hotspots in the WASP gene and have been able to establish a strong association between genotype and phenotype. (Blood. 2004;104:4010-4019) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: B. R. Davis, M. J. DiCola, N. L. Prokopishyn, J. B. Rosenberg, D. Moratto, L. M. Muul, F. Candotti, and R. Michael Blaese Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome Blood, May 15, 2008; 111(10): 5064 - 5067. [Abstract] [Full Text] [PDF] H. Ozsahin, M. Cavazzana-Calvo, L. D. Notarangelo, A. Schulz, A. J. Thrasher, E. Mazzolari, M. A. Slatter, F. Le Deist, S. Blanche, P. Veys, et al. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation Blood, January 1, 2008; 111(1): 439 - 445. [Abstract] [Full Text] [PDF] F. C. Peterson, Q. Deng, M. Zettl, K. E. Prehoda, W. A. Lim, M. Way, and B. F. Volkman Multiple WASP-interacting Protein Recognition Motifs Are Required for a Functional Interaction with N-WASP J. Biol. Chem., March 16, 2007; 282(11): 8446 - 8453. [Abstract] [Full Text] [PDF] A. Konno, M. Kirby, S. A. Anderson, P. L. Schwartzberg, and F. Candotti The expression of Wiskott-Aldrich syndrome protein (WASP) is dependent on WASP-interacting protein (WIP) Int. Immunol., February 1, 2007; 19(2): 185 - 192. [Abstract] [Full Text] [PDF] M. A. de la Fuente, Y. Sasahara, M. Calamito, I. M. Anton, A. Elkhal, M. D. Gallego, K. Suresh, K. Siminovitch, H. D. Ochs, K. C. Anderson, et al. WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP) PNAS, January 16, 2007; 104(3): 926 - 931. [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] V. Binder, M. H. Albert, M. Kabus, M. Bertone, A. Meindl, and B. H. Belohradsky The Genotype of the Original Wiskott Phenotype N. Engl. J. Med., October 26, 2006; 355(17): 1790 - 1793. [Abstract] [Full Text] [PDF] P. J. Ancliff, M. P. Blundell, G. O. Cory, Y. Calle, A. Worth, H. Kempski, S. Burns, G. E. Jones, J. Sinclair, C. Kinnon, et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia Blood, October 1, 2006; 108(7): 2182 - 2189. [Abstract] [Full Text] [PDF] K. Alapi, M. Erdos, O. Torok, and L. Marodi Prenatal Diagnosis of the WAS R86H Sequence Variation in Heterozygous Twins. Clin. Chem., May 1, 2006; 52(5): 901 - 903. [Full Text] [PDF] M. I. Lutskiy, D. S. Beardsley, F. S. Rosen, and E. Remold-O'Donnell Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome Blood, October 15, 2005; 106(8): 2815 - 2817. [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]

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