A Defect of Regulatory T Cells in Patients with Autoimmune Polyendocrinopathy - Candidiasis - Ectodermal Dystrophy

  • Kekäläinen E
  • Tuovinen H
  • Joensuu J
 et al. 
  • 1

    Readers

    Mendeley users who have this article in their library.
  • N/A

    Citations

    Citations of this article.

Abstract

See, stats, and : https : / / www . researchgate . net / publication / 6599364 A Autoimmune - Candidiasis - Ectodermal . . . . Article DOI : 10 . 4049 / jimmunol . 178 . 2 . 1208 : PubMed CITATIONS 130 READS 49 10 , including : Some : APECED T Eliisa University 34 SEE Joonas University 3 SEE Rauli University 30 SEE Nora Eli 11 SEE All . The . Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED) , a monogenic recessive disease characterized by autoimmunity against multiple tissues , offers a unique possibility to study the breakdown of self - tolerance in humans . It is caused by mutations in the autoimmune regulator gene (AIRE) , which encodes a transcriptional regulator . Work using Aire ؊ / ؊ mice suggests that Aire induces ectopic expression of peripheral Ags and promotes their presentation in the thymus . We have explored reasons for the difference between the comparatively mild phenotype of Aire - deficient mice and human APECED patients . We provide evidence that , unlike in the Aire ؊ / ؊ mice , in the patients a key mediator of active tolerance , the CD4 ؉ CD25 ؉ regulatory T (Treg) cell subset is impaired . This was shown by significantly decreased expression of FOXP3 mRNA and protein , decreased function , and alterations in TCR repertoire . Also , in the normal human thymus a concentric accumulation of AIRE ؉ cells was seen

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Eliisa Kekäläinen

  • Heli Tuovinen

  • Joonas Joensuu

  • Mikhail Gylling

  • Rauli Franssila

  • Nora Pöntynen

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free