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Blood, 15 June 2004, Vol. 103, No. 12, pp. 4565-4572. Prepublished online as a Blood First Edition Paper on January 15, 2004; DOI 10.1182/blood-2003-10-3655. This Article Full Text (PDF) All Versions of this Article: 2003-10-3655v1 103/12/4565    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 Nishikomori, R. Articles by Nakahata, T. Search for Related Content PubMed PubMed Citation Articles by Nishikomori, R. Articles by Nakahata, T. Social Bookmarking                   What's this? Submitted October 27, 2003 Accepted January 5, 2004 X-linked Ectodermal Dysplasia and Immunodeficiency Caused by Reversion Mosaicism of NEMO Reveals a Critical Role for NEMO in Human T-cell Development and/or Survival Ryuta Nishikomori, Hiroshi Akutagawa, Kyoko Maruyama, Mami Nakata-Hizume, Katsuyuki Ohmori, Kazunori Mizuno, Akihiro Yachie, Takahiro Yasumi, Takashi Kusunoki, Toshio Heike, and Tatsutoshi Nakahata* Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan Pediatrics, Hyogo Prefectual Tsukaguchi Hospital, Tsukaguchi, Japan Laboratory Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan Pediatrics, Kanazawa University Graduate School of Medicine, Kanazawa, Japan Laboratory Sciences, Kanazawa University Faculty of Medicine, Kanazawa, Japan * Corresponding author; email: tnakaha{at}kuhp.kyoto-u.ac.jp. X-linked ectodermal dysplasia and immunodeficiency (XL-EDA-ID) is an X-linked recessive disease caused by a mutation in the NF-B essential modulator (NEMO). Here we report an XL-EDA-ID patient with atypical features of very few naive-phenotype T cells and defective mitogen-induced proliferation of peripheral blood mononuclear cells (PBMC). The patient's NEMO defect was diagnosed by flow-cytometric analysis of intracellular NEMO staining. Specific cell lineages (monocytes and neutrophils) expressed reduced levels of NEMO, but two populations of T, B, and NK cells were detected, with normal and reduced expression of NEMO. Genomic analysis revealed that duplication of a 4.4-kb sequence ranging from intron 3 to exon 6 caused the reduced expression of NEMO. Polymorphism analysis showed that the patient's B- and T-cell lines with reduced and normal expression of NEMO had the same X chromosome, indicating that the somatic mosaicism was not due to fetomaternal transfusion, but was most likely due to postzygotic reversion. This XL-EDA-ID case adds to our understanding of NEMO biology, indicating that NEMO is critical for T-cell development and/or survival in humans as well as in mice. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: 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] M. Luengo-Blanco, C. Prando, J. Bustamante, W. C. Aragao-Filho, P. V. S. Pereira, J. Rehder, C. 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Heritable defects of the human TLR signalling pathways Innate Immunity, August 1, 2005; 11(4): 220 - 224. [Abstract] [PDF] C.-L. Ku, S. Dupuis-Girod, A.-M. Dittrich, J. Bustamante, O. F. Santos, I. Schulze, Y. Bertrand, G. Couly, C. Bodemer, X. Bossuyt, et al. NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth Pediatrics, May 1, 2005; 115(5): e615 - e619. [Abstract] [Full Text] [PDF]

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