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Immunodysregulation, polyendocrinopathy and enteropathy X-linked


Other Names for this Disease
  • Autoimmunity-immunodeficiency syndrome x-linked
  • Diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked
  • DMSD
  • Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy
  • IDDM secretory diarrhea syndrome
More Names
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Overview


Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a condition that affects the 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.[1]  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.[2]
Last updated: 1/27/2012

References

  1. Hannibal MC, Torgerson T. IPEX Syndrome. GeneReviews. January 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1118/. Accessed 1/23/2012.
  2. 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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Basic Information

  • Genetics Home Reference (GHR) contains information on Immunodysregulation, polyendocrinopathy and enteropathy X-linked. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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