IPEX as a Result of Mutations in FOXP3
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 a...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Wiley
2007-01-01
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| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1155/2007/89017 |
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| _version_ | 1832557044581793792 |
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| author | Hans J. J. van der Vliet Edward E. Nieuwenhuis |
| author_facet | Hans J. J. van der Vliet Edward E. Nieuwenhuis |
| author_sort | Hans J. J. van der Vliet |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a75462eccc0649248c38ea561b1c92e1 |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2007-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Developmental Immunology |
| spelling | doaj-art-a75462eccc0649248c38ea561b1c92e12025-02-03T05:43:52ZengWileyClinical and Developmental Immunology1740-25221740-25302007-01-01200710.1155/2007/8901789017IPEX as a Result of Mutations in FOXP3Hans J. J. van der Vliet0Edward E. Nieuwenhuis1Department of Medical Oncology, Vrije Universiteit Medical Center, De Boelelaan 1117, Amsterdam 1081 HV, The NetherlandsDepartment of Pediatric Gastroenterology, Erasmus Medical Center, Sophia Childrens' Hospital, Rotterdam 3000 GE, The NetherlandsImmunodysregulation, 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.http://dx.doi.org/10.1155/2007/89017 |
| spellingShingle | Hans J. J. van der Vliet Edward E. Nieuwenhuis IPEX as a Result of Mutations in FOXP3 Clinical and Developmental Immunology |
| title | IPEX as a Result of Mutations in FOXP3 |
| title_full | IPEX as a Result of Mutations in FOXP3 |
| title_fullStr | IPEX as a Result of Mutations in FOXP3 |
| title_full_unstemmed | IPEX as a Result of Mutations in FOXP3 |
| title_short | IPEX as a Result of Mutations in FOXP3 |
| title_sort | ipex as a result of mutations in foxp3 |
| url | http://dx.doi.org/10.1155/2007/89017 |
| work_keys_str_mv | AT hansjjvandervliet ipexasaresultofmutationsinfoxp3 AT edwardenieuwenhuis ipexasaresultofmutationsinfoxp3 |