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Prepublished online as a Blood First Edition Paper on May 13, 2002; DOI 10.1182/blood-2001-12-0252. This Article Full Text Full Text (PDF) All Versions of this Article: 2001-12-0252v1 100/4/1496    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 Yabe, T. Articles by Juji, T. Search for Related Content PubMed PubMed Citation Articles by Yabe, T. Articles by Juji, T. Related Collections Immunobiology Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 August 2002, Vol. 100, No. 4, pp. 1496-1498 BRIEF REPORT A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination Toshio Yabe, Sumiyo Kawamura, Masako Sato, Koichi Kashiwase, Hidenori Tanaka, Yoshihide Ishikawa, Yoji Asao, Junko Oyama, Kazuma Tsuruta, Katsushi Tokunaga, Kenji Tadokoro, and Takeo Juji From the Japanese Red Cross Central Blood Center, Tokyo, Japan; the Tokyo Metropolitan Blood Center, Japan; Kumamoto Blood Center, Japan; Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Japan; and the Kashima Clinic, Kumamoto, Japan. HLA class I expression depends on the formation of a peptide-loading complex composed of class I heavy chain; 2-microglobulin; the transporter associated with antigen processing (TAP); and tapasin, which links TAP to the heavy chain. Defects in TAP result in a class I deficiency called the type I bare lymphocyte syndrome (BLS). In the present study, we examined a subject with a novel type I BLS who does not exhibit apparent TAP abnormalities but who has a tapasin defect. The subject's TAPASIN gene has a 7.4-kilobase deletion between introns 3 and 7; an Alu repeat-mediated unequal homologous recombination may be the cause of the deletion. No tapasin polypeptide was detected in the subject's cells. The cell surface class I expression level in tapasin-deficient cells was markedly reduced but the reduction was not as profound as in TAP-deficient cells. These results suggest that tapasin deficiency is another cause of type I BLS. © 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. Carneiro-Sampaio and A. Coutinho Immunity to Microbes: Lessons from Primary Immunodeficiencies Infect. Immun., April 1, 2007; 75(4): 1545 - 1555. [Full Text] [PDF] J. Zimmer, E. Andres, L. Donato, D. Hanau, F. Hentges, and H. de la Salle Clinical and immunological aspects of HLA class I deficiency QJM, October 1, 2005; 98(10): 719 - 727. [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