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

️Wed Jan 01 2020

Case Reports

. 2020 Sep 9:2020:9860863.

doi: 10.1155/2020/9860863. eCollection 2020.

Affiliations

PMID: 32963853
PMCID: PMC7499275
DOI: 10.1155/2020/9860863

Case Reports

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

Ali Al Maawali et al. Case Reports Immunol. 2020.

Abstract

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.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

**Figure 1**
FOXP3 expression in Treg cells measured by flow cytometry: (a) control; (b) patient.

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