Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene

Frontiers in Pediatrics
Charalampos AgakidisEvangelia Farmaki

Abstract

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, x-linked, recessive disorder characterized by dysfunction of the T regulatory (Treg) lymphocytes leading to autoimmune diseases. Herein we report a male patient with IPEX syndrome who presented with severe diarrhea, eczema, and malabsorption leading to failure to thrive and necessitating total parenteral nutrition, as well as with liver dysfunction. Laboratory investigation showed elevated liver enzymes that declined following treatment with glucocorticosteroids and immunosuppressive drugs, marked eosinophilia, increased total IgE, and decreased Treg cells. DNA analysis revealed that the patient himself was hemizygous and his mother heterozygous for the exon 10, c.1015C>T (p.Pro339Ser) mutation of the FOXP3 gene, which has not been previously reported. The current case indicates that mutations resulting in substitution of a certain amino-acid (i.e., proline 339) by different amino-acids are manifested with different IPEX phenotypes.

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Citations

Dec 31, 2020·International Journal of Molecular Sciences·Demetra S M ChatzileontiadouEmma J Grant
Apr 6, 2021·Balkan Journal of Medical Genetics : BJMG·M Kocova
Sep 1, 2021·Reviews in Endocrine & Metabolic Disorders·Zhongqin GongGeorge G Chen

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Methods Mentioned

BETA
biopsies
protein folding

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