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Blood, 1 September 2004, Vol. 104, No. 5, pp. 1270-1272. Prepublished online as a Blood First Edition Paper on May 13, 2004; DOI 10.1182/blood-2004-03-0846. This Article Full Text Full Text (PDF) All Versions of this Article: 2004-03-0846v1 104/5/1270    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 Wada, T. Articles by Candotti, F. Search for Related Content PubMed PubMed Citation Articles by Wada, T. Articles by Candotti, F. Related Collections Immunobiology Cytoskeleton Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Brief report Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family Taizo Wada, Shepherd H. Schurman, G. Jayashree Jagadeesh, Elizabeth K. Garabedian, David L. Nelson, and Fabio Candotti From the Genetics and Molecular Biology Branch and the Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health; and the Metabolism Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. We previously reported on a 43-year-old patient with Wiskott-Aldrich syndrome (WAS) who experienced progressive clinical improvement and revertant T-cell mosaicism. Deletion of the disease-causing 6-bp insertion was hypothesized to have occurred by DNA polymerase slippage. We now describe 2 additional patients from the same family who also had revertant T lymphocytes that showed selective in vivo advantage. Somatic mosaicism was demonstrated on leukocytes cryopreserved in the first patient when he was 22 years old, 11 years before his death from kidney failure. The second patient is now 16 years old, has a moderate clinical phenotype, and developed revertant cells after the age of 14 years. These results support DNA polymerase slippage as a common underlying mechanism, and they indicate that T-cell mosaicism may have different clinical effects in WAS. 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] 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] Y. Tabata, J. Villanueva, S. M. Lee, K. Zhang, H. Kanegane, T. Miyawaki, J. Sumegi, and A. H. Filipovich Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members Blood, April 15, 2005; 105(8): 3066 - 3071. [Abstract] [Full Text] [PDF]

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