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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immune system of a male baby 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). Some cases of IPEX syndrome have been shown to be caused by a change (mutation) of the FOXP3 gene, which is located on the X chromosome. Treatment of IPEX syndrome consists of medications that limit immune system functioning; a bone marrow transplantation can cure some cases of this condition. In a separate condition known as IPEX-like syndrome, affected individuals may have symptoms similar to those of IPEX syndrome but no mutation can be found in the FOXP3 gene; both males and females have been diagnosed with IPEX-like syndrome. The cause of IPEX-like syndrome has not yet been identified.Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a condition that affects the
Last updated: 1/27/2012
- Hannibal MC, Torgerson T. IPEX Syndrome. GeneReviews. January 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1118/. Accessed 1/23/2012.
- 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. Accessed 1/25/2012.
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