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Blood, 1 February 2007, Vol. 109, No. 3, pp. 1182-1184. Prepublished online as a Blood First Edition Paper on September 21, 2006; DOI 10.1182/blood-2006-08-039057. This Article Full Text (PDF) All Versions of this Article: blood-2006-08-039057v1 109/3/1182    most recent Alert me when this article is cited Alert me if a correction is posted 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 Tone, Y. Articles by Yachie, A. Search for Related Content PubMed PubMed Citation Articles by Tone, Y. Articles by Yachie, A. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted August 1, 2006 Accepted September 8, 2006 Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1 Yumi Tone, Taizo Wada*, Fumie Shibata, Tomoko Toma, Yoko Hashida, Yoshihito Kasahara, Shoichi Koizumi, and Akihiro Yachie Department of Pediatrics, Kanazawa University, Kanazawa, Japan Department of Laboratory Sciences, Kanazawa University, Kanazawa, Japan * Corresponding author; email: taizo{at}ped.m.kanazawa-u.ac.jp. Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive disorder caused by mutations in the ITGB2 (CD18) gene, and characterized by recurrent severe infections, impaired pus formation, and defective wound healing. We describe an unusual case of severe phenotypic LAD-1 presenting somatic mosaicism. The patient is a compound heterozygote bearing two different frameshift mutations which abrogate protein expression. CD18 expression was, however, detected in a small proportion of T cells, but was undetectable in granulocytes, monocytes, B cells, and NK cells. The T cells were not of maternal origin, lacked the paternal mutation, and showed a selective advantage in vivo. Molecular analysis using sorted CD18+ cells revealed them to be derived from a single CD8+ T cell carrying T-cell receptor VB22. These findings suggest that spontaneous in vivo reversion was responsible for the somatic mosaicism in our patient. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. D. Notarangelo and R. Badolato Leukocyte trafficking in primary immunodeficiencies J. Leukoc. Biol., March 1, 2009; 85(3): 335 - 343. [Abstract] [Full Text] [PDF] W. Qasim, M. Cavazzana-Calvo, E. G. Davies, J. Davis, M. Duval, G. Eames, N. Farinha, A. Filopovich, A. Fischer, W. Friedrich, et al. Allogeneic Hematopoietic Stem-Cell Transplantation for Leukocyte Adhesion Deficiency Pediatrics, March 1, 2009; 123(3): 836 - 840. [Abstract] [Full Text] [PDF] C. Speckmann, U. Pannicke, E. Wiech, K. Schwarz, P. Fisch, W. Friedrich, T. Niehues, K. Gilmour, K. Buiting, M. Schlesier, et al. Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency Blood, November 15, 2008; 112(10): 4090 - 4097. [Abstract] [Full Text] [PDF] T. Wada, M. Yasui, T. Toma, Y. Nakayama, M. Nishida, M. Shimizu, M. Okajima, Y. Kasahara, S. Koizumi, M. Inoue, et al. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome Blood, September 1, 2008; 112(5): 1872 - 1875. [Abstract] [Full Text] [PDF] 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] G. Uzel, E. Tng, S. D. Rosenzweig, A. P. Hsu, J. M. Shaw, M. E. Horwitz, G. F. Linton, S. M. Anderson, M. R. Kirby, J. B. Oliveira, et al. Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1) Blood, January 1, 2008; 111(1): 209 - 218. [Abstract] [Full Text] [PDF]

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