New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - Ipex syndrome
Introduction: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endocrine disorders, and dermatitis. The treatment is the administration
- Autores:
-
Plata Garcia, Clara
Martin Marin, Myriam Lorena
Soler Ramírez, Ángela María
Rojas Martínez, Jorge Armando
Salazar Gonzalez, Maria Paula
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2020
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/60059
- Acceso en línea:
- https://revistachilenadepediatria.cl/index.php/rchped/article/view/1467
http://hdl.handle.net/10554/60059
https://doi.org/10.32641/rchped.v91i4.1467
- Palabra clave:
- Ipex Syndrome
Foxp3
Autoimmune Enteropathy
Diarrhea
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
| Summary: | Introduction: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endocrine disorders, and dermatitis. The treatment is the administration |
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