IPEX (syndrome)

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IPEX (syndrome)
OMIM 304790
DiseasesDB 33417

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IPEX stands for immunodysregulation polyendocrinopathy enteropathy X-linked syndrome and it is a rare disease linked to the dysfunction of the transcriptional activator FoxP3. [1]

It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity.

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.[2]

References

  1. Yong PL, Russo P, Sullivan KE (2008). "Use of Sirolimus in IPEX and IPEX-Like Children". J. Clin. Immunol. doi:10.1007/s10875-008-9196-1. PMID 18481161. Unknown parameter |month= ignored (help)
  2. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

See also


fi:Ipex-oireyhtymä



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