Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.


Barzaghi F., Hernandez L. C. A. , Neven B., Ricci S., Kucuk Z. Y. , Bleesing J. J. , ...More

The Journal of allergy and clinical immunology, vol.141, no.3, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 141 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.1016/j.jaci.2017.10.041
  • Title of Journal : The Journal of allergy and clinical immunology
  • Keywords: IPEX, primary immune deficiency, FOXP3, Treg cells, hematopoietic stem cell transplantation, immunosuppression, rapamycin, enteropathy, neonatal diabetes, genetic autoimmunity, X-LINKED SYNDROME, STEM-CELL TRANSPLANTATION, REGULATORY T-CELLS, IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, IMMUNODYSREGULATION, ENGRAFTMENT, MUTATIONS, SIROLIMUS

Abstract

Background: Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.