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IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity

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Abstract

FOXP3 is the key mediator of regulatory T-cell development in the thymus. Naturally occurring mutations of FOXP3 interfere with this process, resulting in the generation of autoaggressive lymphocyte clones that are directly responsible for the syndrome Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) in humans and scurfy in mice. Stem cell transplantation is the only cure for IPEX patients. The study of this rare disease has provided important insight into the mechanisms of immunosuppression, autoimmunity and tolerance and future studies may lead to novel strategies to treat not only patients with IPEX, but also those suffering from autoimmunity, graft-versus-host disease or cancer.

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Acknowledgment

Supported by National Institutes of Health Grant HD17427 and grants from the Immunodeficiency Foundation and the Jeffrey Modell Foundation (H.D.O.) and Pfizer post-doctoral fellowship and Child Health Research Center Grant HD043376-03 (T.R.T.)

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Authors and Affiliations

  1. Division of Immunology, Infectious Diseases, Rheumatology, Children’s Hospital and University of Washington, 307 Westlake Ave. North, Suite 300 (CW), Seattle, WA, 98109, USA

    Hans D. Ochs & Troy R. Torgerson

  2. Department of Pediatrics, University of Florence, Amma Meyer Children’s Hospital, via Luca Giordano, 13, 50132, Firence, Italy

    Eleonora Gambineri

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  1. Hans D. Ochs
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  2. Eleonora Gambineri
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  3. Troy R. Torgerson
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Correspondence to Hans D. Ochs.

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Ochs, H.D., Gambineri, E. & Torgerson, T.R. IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity. Immunol Res 38, 112–121 (2007). https://doi.org/10.1007/s12026-007-0022-2

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