Epigenetic signature at FOXP3 distal enhancer affects regulatory T cell development in Kabuki syndrome
Alessandra Colamatteo, Antonietta Liotti, Valeria Mazzone, Clorinda Fusco, Antonio Porcellini, Sara Bruzzaniti, Anne Lise Ferrara, Daria Marcogiuseppe, Annamária Szabó, Daniela Melis, Carmelo Piscopo, Matteo Della Monica, Giuliana Giardino, Gioacchino Scarano, Emile Danvin, , V. De Rosa
This study identifies an epigenetic signature at the FOXP3 distal enhancer in Kabuki syndrome patients that impairs Treg development, linking KMT2D loss to immune dysregulation.
bioRxiv · Apr 11, 2026 · PreprintImmunology