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AIRE and APECED: molecular insights into an autoimmune disease

Authors

  • Jennifer Villaseñor,

    1. Department of Medicine, Section on Immunology and Immunogenetics, Joslin Diabetes Center, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
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  • Christophe Benoist,

    1. Department of Medicine, Section on Immunology and Immunogenetics, Joslin Diabetes Center, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
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  • Diane Mathis

    Corresponding author
    1. Department of Medicine, Section on Immunology and Immunogenetics, Joslin Diabetes Center, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
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* Diane Mathis
Department of Medicine
Section on Immunology and Immunogenetics
Joslin Diabetes Center
Brigham and Women's Hospital
Harvard Medical School
Boston, MA 02215
USA
Tel.: +1 617 264 2781
Fax: +1 617 264 2744
E-mail: diane.mathis@joslin.harvard.edu

Abstract

Summary:  Mutations in the autoimmune regulator (AIRE) protein are the causative factor in development of the human disease autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). In mice, the absence of the analogous protein aire influences ectopic expression of peripheral tissue antigens in thymic medullary epithelial cells (MECs), resulting in the development of an autoimmune disorder similar to APECED and establishing aire/AIRE as an important player in the induction of central tolerance. However, the molecular mechanism of AIRE's function, in particular its ability to specifically control the expression of peripheral tissue antigens in MECs, is still unclear. Here, we review current evidence relating to the molecular mechanism of AIRE.

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