IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom

IPEX (immune dysregulation-polyendocrinopathy-enteropathy-X-linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the FOXP3 gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune-suppressive action...

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Detalles Bibliográficos
Autores principales: Al Maawali, Ali, Derfalvi, Beata, Van Limbergen, Johan, Issekutz, Andrew, Issekutz, Thomas, Ghandourah, Hasan, Rashid, Mohsin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499275/
https://www.ncbi.nlm.nih.gov/pubmed/32963853
http://dx.doi.org/10.1155/2020/9860863

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