Immunodysregulation, polyendocrinopathy and enteropathy X-linked
Other Names for this Disease
- IPEX syndrome
- X-linked autoimmunity-allergic dysregulation syndrome
- IDDM secretory diarrhea syndrome
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autoimmune disease. it affects only males and starts in the first six months of life. The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis). IPEX syndrome is caused by changes (mutations) of the FOXP3 gene, which is located on the X chromosome. There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females. Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments.Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare
Last updated: 2/20/2016
- Hannibal MC & Torgerson T. IPEX Syndrome. GeneReviews. January 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1118/.
- Verbsky JW & Chatila TA. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-Related Disorders: an Evolving Web of Heritable Autoimmune Diseases. Curr Opin Pediatr. December, 2013; 25(6):708–714. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4047515/.
- Ruemmele FM, Moes N, de Serre NP, Rieux-Laucat F & Goulet O. Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. Current Opinion in Gastroenterology. 2008; 24:742-748. http://www.ncbi.nlm.nih.gov/pubmed/19122524.
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