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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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2020/9860863 |
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| _version_ | 1832546867444973568 |
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| author | Ali Al Maawali Beata Derfalvi Johan Van Limbergen Andrew Issekutz Thomas Issekutz Hasan Ghandourah Mohsin Rashid |
| author_facet | Ali Al Maawali Beata Derfalvi Johan Van Limbergen Andrew Issekutz Thomas Issekutz Hasan Ghandourah Mohsin Rashid |
| author_sort | Ali Al Maawali |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4349c271a3c74986931970e3ef6fab45 |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-4349c271a3c74986931970e3ef6fab452025-02-03T06:46:54ZengWileyCase Reports in Immunology2090-66092090-66172020-01-01202010.1155/2020/98608639860863IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single SymptomAli Al Maawali0Beata Derfalvi1Johan Van Limbergen2Andrew Issekutz3Thomas Issekutz4Hasan Ghandourah5Mohsin Rashid6Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, CanadaDivision of Immunology, Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, CanadaDivision of Pediatric Gastroenterology and Nutrition, Emma Children’s Hospital, Amsterdam University Medical Centers, Amsterdam, NetherlandsDivision of Immunology, Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, CanadaDivision of Immunology, Department of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, CanadaDepartment of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, CanadaDepartment of Paediatrics, Faculty of Medicine, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, CanadaIPEX (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.http://dx.doi.org/10.1155/2020/9860863 |
| spellingShingle | Ali Al Maawali Beata Derfalvi Johan Van Limbergen Andrew Issekutz Thomas Issekutz Hasan Ghandourah Mohsin Rashid 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 |
| title | IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom |
| title_full | IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom |
| title_fullStr | IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom |
| title_full_unstemmed | IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom |
| title_short | IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom |
| title_sort | ipex syndrome with normal foxp3 protein expression in treg cells in an infant presenting with intractable diarrhea as a single symptom |
| url | http://dx.doi.org/10.1155/2020/9860863 |
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