Open AccessIPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom
Author(s) -
Ali Al Maawali,
Beáta Dérfalvi,
Johan Van Limbergen,
Andrew C. Issekutz,
Thomas B. Issekutz,
Hasan Ghandourah,
Mohsin Rashid
Publication year - 2020
Publication title -
case reports in immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
H-Index - 3
eISSN - 2090-6609
pISSN - 2090-6617
DOI - 10.1155/2020/9860863
Subject(s) - immune dysregulation , foxp3 , immunology , medicine , enteropathy , autoimmunity , diarrhea , immune system , missense mutation , mutation , gene , biology , genetics , disease
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.