Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report

World Journal of Clinical Cases
Na SuChuan Tian

Abstract

Immune dysregulation, polyendocrinopthy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3 (FOXP3) gene, which is a master transcriptional regulator for the development and function of CD4+CD25+ regulatory T (Treg) cells. The dysfunction of these cells leads to multiple system autoimmune diseases. We present a case of IPEX due to a mutation not reported in the literature before. We report a male patient with IPEX syndrome who presented with refractory diarrhea and malabsorption leading to failure to thrive, as well as with hypothyroidism and nephrotic syndrome. Laboratory investigation showed increased total IgE and Treg cells, decreased free triiodothyronine (FT3) and free thyroxine (FT4), and proteinuria. Multiple dietary and supportive treatments were introduced but did not improve the diarrhea during his hospital stay. Ultimately, whole exome sequencing revealed that the patient was hemizygous for the exon 5, c.542G>A (p.Ser181Asn) mutation of the FOXP3 gene, which has not been previously reported. The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report. ...Continue Reading

References

May 1, 1982·The Journal of Pediatrics·B R PowellP Stenzel
Dec 20, 2000·The Journal of Clinical Investigation·T A ChatilaA M Bowcock
Aug 3, 2001·The Journal of Biological Chemistry·L A SchubertS F Ziegler
Nov 5, 2003·The Journal of Clinical Investigation·Mindi R WalkerSteven F Ziegler
Dec 13, 2003·The Journal of Clinical Endocrinology and Metabolism·Catherine J OwenSimon H S Pearce
Mar 26, 2005·Proceedings of the National Academy of Sciences of the United States of America·Estelle BettelliMohamed Oukka
Mar 23, 2006·Annual Review of Immunology·Steven F Ziegler
Jun 3, 2006·The Journal of Clinical Investigation·Rosa BacchettaMaria Grazia Roncarolo
Sep 7, 2012·Cold Spring Harbor Perspectives in Biology·Christophe Benoist, Diane Mathis
Jan 21, 2015·The American Journal of Surgical Pathology·Jennifer PogorilerJeffrey D Goldsmith
Feb 26, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Eujin ParkHae Il Cheong
Jan 11, 2016·Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi·Chih-An ChenChi-Chang Shieh

❮ Previous
Next ❯

Methods Mentioned

BETA
exome sequencing

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Autoimmune Polyendocrine Syndromes

This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.

Autoimmune Polyendocrinopathies

Autoimmune polyendocrinopathies, also called polyglandular autoimmune syndromes (PGASs), or polyendocrine autoimmune syndromes(PASs), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. Discover the latest research on autoimmune polyendocrinopathies here.

Allogenic & Autologous Therapies

Allogenic therapies are generated in large batches from unrelated donor tissues such as bone marrow. In contrast, autologous therapies are manufactures as a single lot from the patient being treated. Here is the latest research on allogenic and autologous therapies.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.