Ontology highlight
ABSTRACT:
SUBMITTER: Goodwin M
PROVIDER: S-EPMC7202871 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Goodwin M M Lee E E Lakshmanan U U Shipp S S Froessl L L Barzaghi F F Passerini L L Narula M M Sheikali A A Lee C M CM Bao G G Bauer C S CS Miller H K HK Garcia-Lloret M M Butte M J MJ Bertaina A A Shah A A Pavel-Dinu M M Hendel A A Porteus M M Roncarolo M G MG Bacchetta R R
Science advances 20200506 19
The prototypical genetic autoimmune disease is immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a severe pediatric disease with limited treatment options. IPEX syndrome is caused by mutations in the forkhead box protein 3 (<i>FOXP3</i>) gene, which plays a critical role in immune regulation. As a monogenic disease, IPEX is an ideal candidate for a therapeutic approach in which autologous hematopoietic stem and progenitor (HSPC) cells or T cells are gene edited ex viv ...[more]