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Diseases

Genetic and Rare Diseases Information Center (GARD)

Immunodysregulation, polyendocrinopathy and enteropathy X-linked


Other Names for this Disease
  • IPEX syndrome
  • X-linked autoimmunity-allergic dysregulation syndrome
  • XLAAD
  • IDDM secretory diarrhea syndrome
  • DMSD
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) diagnosed in women?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 rare 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.[1] 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.[2][3] 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.[1]  
Last updated: 2/20/2016

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

Immunodysregulation Polyendocrinopathy Enteropathy X-linked (IPEX) syndrome only affects males. Because the FOXP3 gene is found on the X chromosome and males have only one X chromosome, whereas females have two X chromosomes, if there is mutation in a male's FOXP3 gene, he 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 gene mutation. Since 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: 2/21/2016

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, but there may be many unreported cases.[1]
Last updated: 2/23/2016

References
  • 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.
Other Names for this Disease
  • IPEX syndrome
  • X-linked autoimmunity-allergic dysregulation syndrome
  • XLAAD
  • IDDM secretory diarrhea syndrome
  • DMSD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.