IPEX as a Result of Mutations in FOXP3

van der Vliet, Hans J. J.; Nieuwenhuis, Edward E.

doi:https://doi.org/10.1155/2007/89017

Journal of Immunology Research

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Volume 2007 | Article ID 089017 | https://doi.org/10.1155/2007/89017

IPEX as a Result of Mutations in FOXP3

Hans J. J. van der Vliet¹and Edward E. Nieuwenhuis²

Academic Editor: Y. Liu

Received03 Jul 2007

Revised12 Aug 2007

Accepted13 Aug 2007

Published30 Oct 2007

Abstract

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates the importance of immunoregulatory cells such as CD4+CD25+ regulatory T cells.

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Copyright

Copyright © 2007 Hans J. J. van der Vliet and Edward E. Nieuwenhuis. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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