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- Title
IPEX as a Result of Mutations in FOXP3.
- Authors
van der Vliet, Hans J. J.; Nieuwenhuis, Edward E.
- 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.
- Subjects
GENETIC mutation; INTESTINAL diseases; T cells; AUTOIMMUNITY; AUTOIMMUNE diseases; IMMUNOMODULATORS
- Publication
Clinical & Developmental Immunology, 2007, p1
- ISSN
1740-2522
- Publication type
Article
- DOI
10.1155/2007/89017