IPEX syndrome

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IPEX syndrome
Classification and external resources
OMIM 304790
DiseasesDB 33417
Orphanet 37042

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 immune system against the body's own tissues and organs. Early age onset of this disease in males causes severe enlargement of the secondary lymphoid organs, insulin dependent diabetes, eczema, food allergies, and infections. There has been limited success in treating the syndrome by bone marrow transplantation.[3]

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  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. doi:10.1007/s10875-008-9196-1. PMID 18481161. 
  2. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 72. ISBN 1-4160-2999-0. 
  3. ^ Wildin RS, Smyk-Pearson S, Filipovich AH (August 2002). "Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome". J Med Genet. 39 (8): 537–45. doi:10.1136/jmg.39.8.537. PMC 1735203Freely accessible. PMID 12161590. 

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