World Library  
Flag as Inappropriate
Email this Article
 

IPEX syndrome

IPEX syndrome
Classification and external resources
OMIM 304790
DiseasesDB 33417
GeneReviews
  • IPEX Syndrome

IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage.[1]

It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity.[2] The disorder manifests with autoimmune enteropathy, psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies (overlapping with those seen in APECED syndrome), and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid.[2]

This autoimmunity is called IPEX and it is the attack from the body's own insulin dependent diabetes, eczema, food allergies, and infections. There has been limited success in treating the syndrome by bone marrow transplantation.[3]

See also

References

  1. ^ Yong PL, Russo P, Sullivan KE (May 2008). "Use of Sirolimus in IPEX and IPEX-Like Children". J. Clin. Immunol. 28 (5): 581–7.  
  2. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 72.  
  3. ^ Wildin RS, Smyk-Pearson S, Filipovich AH (August 2002). "Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome".  

External links

  • GeneReview/NIH/UW entry on IPEX Syndrome


This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.