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  • Loss of Treg identity in IPEX patients is associated with increase autoreactivity in Teff cells Borna, S., Lee, E., Lakshmanan, U., Narula, M., Schulze, J., Ramachandran, A., Bertaina, A., Meffre, E., Maria, R., Bacchetta, R. SPRINGER/PLENUM PUBLISHERS. 2022: S78-S79
  • Towards gene therapy for IPEX syndrome. European journal of immunology Borna, S., Lee, E., Sato, Y., Bacchetta, R. 2022


    Immune dysregulation polyendocrinopathy enteropathy X linked (IPEX) syndrome is an uncurable disease of the immune system, with immune dysregulation that is caused by mutations in FOXP3. Current treatment options, such as pharmacological immune suppression and allogeneic hematopoietic stem cell transplantation, have been beneficial but present limitations, and their life-long consequences are ill defined. Other similar blood monogenic diseases have been successfully treated using gene transfer in autologous patient cells, thus providing an effective and less invasive therapeutic. Development of gene therapy for patients with IPEX is particularly challenging because successful strategies must restore the complex expression profile of the transcription factor FOXP3, ensuring it is tightly regulated, and its cell subset-specific roles are maintained. This review summarizes current efforts toward achieving gene therapy to treat the immune dysregulation in IPEX patients. This article is protected by copyright. All rights reserved.

    View details for DOI 10.1002/eji.202149210

    View details for PubMedID 35355253