SEARCH:   Advanced

Blood, 1 January 2008, Vol. 111, No. 1, pp. 271-274. Prepublished online as a Blood First Edition Paper on September 21, 2007; DOI 10.1182/blood-2007-06-096487. This Article Full Text Full Text (PDF) Supplemental Figures All Versions of this Article: blood-2007-06-096487v1 111/1/271    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 Matangkasombut, P. Articles by Notarangelo, L. D. Search for Related Content PubMed PubMed Citation Articles by Matangkasombut, P. Articles by Notarangelo, L. D. Related Collections Immunobiology Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  IMMUNOBIOLOGY Brief Report Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations Ponpan Matangkasombut1, Muriel Pichavant1, Doris E. Saez2, Silvia Giliani3, Evelina Mazzolari3, Andrea Finocchi4, Anna Villa5,6, Cristina Sobacchi5,6, Patricia Cortes2, Dale T. Umetsu1, and Luigi D. Notarangelo1 1 Division of Immunology, Children's Hospital Boston, Harvard Medical School, Boston, MA; 2 Immunology Institute, Department of Medicine, Mount Sinai School of Medicine, New York, NY; 3 Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy; 4 Department of Pediatrics, Tor Vergata University, Rome, Italy; 5 Istituto Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate, Milan, Italy; and 6 Istituto Clinico Humanitas, Rozzano, Milan, Italy Hypomorphic mutations of the RAG genes in humans are associated with a spectrum of clinical and immunologic presentations that range from T– B– severe combined immune deficiency (SCID) to Omenn syndrome. In most cases, residual V(D)J recombination activity allows for development of few T-cell clones, which expand in the periphery and infiltrate target organs, resulting in tissue damage. Invariant natural killer T (iNKT) cells play an important immunoregulatory role and have been associated with protection against autoimmunity. We now report on 5 unrelated cases of combined immune deficiency due to hypomorphic RAG mutations, and demonstrate the absence of iNKT cells in all 5 patients. These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Locci, E. Draghici, F. Marangoni, M. Bosticardo, M. Catucci, A. Aiuti, C. Cancrini, L. Marodi, T. Espanol, R. G.M. Bredius, et al. The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function J. Exp. Med., April 13, 2009; 206(4): 735 - 742. [Abstract] [Full Text] [PDF]

	Copyright © 2008 by American Society of Hematology         Online ISSN: 1528-0020