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

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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Bibliographic Details
Main Authors: Ali Al Maawali, Beata Derfalvi, Johan Van Limbergen, Andrew Issekutz, Thomas Issekutz, Hasan Ghandourah, Mohsin Rashid
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Case Reports in Immunology
Online Access:http://dx.doi.org/10.1155/2020/9860863
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