IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom
Joint Authors
Al Maawali, Ali
Derfalvi, Beata
Van Limbergen, Johan
Issekutz, Andrew
Issekutz, Thomas
Ghandourah, Hasan
Rashid, Mohsin
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-09-09
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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 actions which can in turn cause autoimmune and inflammatory disorders.
We describe an infant with IPEX syndrome with unremarkable maternal family history whose only presentations were severe diarrhea and malnutrition.
The patient had a normal percentage of Treg cells and FOXP3 protein expression, but further testing revealed a hemizygous missense mutation in the FOXP3 gene.
IPEX syndrome should be considered in young children even if severe intractable diarrhea is the only symptom with no other autoimmune manifestations.
Sequencing of the FOXP3 gene should always be considered for accurate diagnosis to look for mutations even in the face of normal FOXP3 protein expression in the Treg cell.
American Psychological Association (APA)
Al Maawali, Ali& Derfalvi, Beata& Van Limbergen, Johan& Issekutz, Andrew& Issekutz, Thomas& Ghandourah, Hasan…[et al.]. 2020. IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom. Case Reports in Immunology،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148041
Modern Language Association (MLA)
Al Maawali, Ali…[et al.]. IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom. Case Reports in Immunology No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1148041
American Medical Association (AMA)
Al Maawali, Ali& Derfalvi, Beata& Van Limbergen, Johan& Issekutz, Andrew& Issekutz, Thomas& Ghandourah, Hasan…[et al.]. IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom. Case Reports in Immunology. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1148041
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148041