Šimon Borna, Esmond Lee, Jason Nideffer, Akshaya Ramachandran, Bing Wang, Jeanette Baker, Melissa Mavers, Uma Lakshmanan, Mansi Narula, Amy Kang-Hee Garrett, Janika Schulze, Sven Olek, Louis Marois, Yael Gernez, Monica Bhatia, Hey Jin Chong, Jolan Walter, Maleewan Kitcharoensakkul, Abigail Lang, Megan A Cooper, Alice Bertaina, Maria Grazia Roncarolo, Eric Meffre, Rosa Bacchetta
Studies of the monogenic autoimmune disease immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) have elucidated the essential function of the transcription factor FOXP3 and thymic-derived regulatory T cells (Tregs ) in controlling peripheral tolerance. However, the presence and the source of autoreactive T cells in IPEX remain undetermined. Here, we investigated how FOXP3 deficiency affects the T cell receptor (TCR) repertoire and Treg stability in vivo and compared T cell abnormalities in patients with IPEX with those in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED)...
December 20, 2023: Science Translational Medicine