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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

How is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) found in a woman's body?  And also how rare is this disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome?

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

How is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome diagnosed in a female?

Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome usually only affects males.  Males have only one FOXP3 gene; if there is mutation in that FOXP3 gene, a boy will have IPEX syndrome.  If a male is diagnosed with IPEX syndrome based on clinical symptoms, he may have genetic testing to look for a mutation in the FOXP3 gene.  If a mutation is found, his female relatives could then be tested for the same FOXP3 mutation.  Females have two FOXP3 genes; if a mutation is found in one of the two FOXP3 genes, she is considered a carrier of IPEX syndrome; she would not be expected to have any symptoms of the disease herself, but she could potentially pass the condition on to a son.[1] 
Last updated: 1/27/2012

How rare is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome?

Fewer than 150 individuals have ever been diagnosed with immunodysregulation polyendocrinopathy enterology x-linked (IPEX) syndrome.[1]
Last updated: 1/27/2012

References
  • 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.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.