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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

Al Maawali, Ali ; Derfalvi, Beata ; Van Limbergen, Johan ; Issekutz, Andrew ; Issekutz, Thomas ; Ghandourah, Hasan ; Rashid, Mohsin Litzman, Jiri ; Jiri Litzman

Case reports in immunology, 2020-09, Vol.2020, p.1-5 [Periódico revisado por pares]

New York: Hindawi

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Título:
IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom
Autor: Al Maawali, Ali ; Derfalvi, Beata ; Van Limbergen, Johan ; Issekutz, Andrew ; Issekutz, Thomas ; Ghandourah, Hasan ; Rashid, Mohsin
Litzman, Jiri ; Jiri Litzman
Assuntos: Age ; Anemia ; Antibodies ; Antigens ; Biopsy ; Case Report ; Dermatitis ; Diabetes ; Diarrhea ; Failure to thrive ; Flow cytometry ; Foxp3 protein ; Genotype & phenotype ; Immunology ; Immunoregulation ; Inflammatory diseases ; Laboratories ; Lymphocytes ; Lymphocytes T ; Malnutrition ; Missense mutation ; Mutation ; Neutropenia ; Patients ; Protein expression ; Proteins ; Stem cells ; Thrombocytopenia ; Thyroid gland ; Tumor necrosis factor-TNF
É parte de: Case reports in immunology, 2020-09, Vol.2020, p.1-5
Notas: Academic Editor: Jiri Litzman
Descrição: 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.
Editor: New York: Hindawi
Idioma: Inglês

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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

Al Maawali, Ali ; Derfalvi, Beata ; Van Limbergen, Johan ; Issekutz, Andrew ; Issekutz, Thomas ; Ghandourah, Hasan ; Rashid, Mohsin Litzman, Jiri ; Jiri Litzman

New York: Hindawi

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