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Clinical and Developmental Immunology
Volume 2007, Article ID 89017, 5 pages
Review Article

IPEX as a Result of Mutations in FOXP3

1Department of Medical Oncology, Vrije Universiteit Medical Center, De Boelelaan 1117, Amsterdam 1081 HV, The Netherlands
2Department of Pediatric Gastroenterology, Erasmus Medical Center, Sophia Childrens' Hospital, Rotterdam 3000 GE, The Netherlands

Received 3 July 2007; Revised 12 August 2007; Accepted 13 August 2007

Academic Editor: Y. Liu

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.


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.