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IPEX as a Result of Mutations in FOXP3
- Source :
- Clinical and Developmental Immunology.
- Publication Year :
- 2007
- Publisher :
- Hindawi Publishing Corporation, 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.
- Subjects :
- Article Subject
Subjects
Details
- Language :
- English
- ISSN :
- 17402522
- Database :
- OpenAIRE
- Journal :
- Clinical and Developmental Immunology
- Accession number :
- edsair.hindawi.publ..15e99a3cf72fbad491f7fa966b7f166a
- Full Text :
- https://doi.org/10.1155/2007/89017