Vasileios Oikonomou, Grace Smith, Gregory M Constantine, Monica M Schmitt, Elise M N Ferré, Julie C Alejo, Deanna Riley, Dhaneshwar Kumar, Lucas Dos Santos Dias, Joseph Pechacek, Yannis Hadjiyannis, Taura Webb, Bryce A Seifert, Rajarshi Ghosh, Magdalena Walkiewicz, Daniel Martin, Marine Besnard, Brendan D Snarr, Shiva Deljookorani, Chyi-Chia R Lee, Tom DiMaggio, Princess Barber, Lindsey B Rosen, Aristine Cheng, Andre Rastegar, Adriana A de Jesus, Jennifer Stoddard, Hye Sun Kuehn, Timothy J Break, Heidi H Kong, Leslie Castelo-Soccio, Ben Colton, Blake M Warner, David E Kleiner, Martha M Quezado, Jeremy L Davis, Kevin P Fennelly, Kenneth N Olivier, Sergio D Rosenzweig, Anthony F Suffredini, Mark S Anderson, Marc Swidergall, Carole Guillonneau, Luigi D Notarangelo, Raphaela Goldbach-Mansky, Olaf Neth, Maria Teresa Monserrat-Garcia, Justo Valverde-Fernandez, Jose Manuel Lucena, Ana Lucia Gomez-Gila, Angela Garcia Rojas, Mikko R J Seppänen, Jouko Lohi, Matti Hero, Saila Laakso, Paula Klemetti, Vanja Lundberg, Olov Ekwall, Peter Olbrich, Karen K Winer, Behdad Afzali, Niki M Moutsopoulos, Steven M Holland, Theo Heller, Stefania Pittaluga, Michail S Lionakis
BACKGROUND: Autoimmune polyendocrine syndrome type 1 (APS-1) is a life-threatening, autosomal recessive syndrome caused by autoimmune regulator (AIRE) deficiency. In APS-1, self-reactive T cells escape thymic negative selection, infiltrate organs, and drive autoimmune injury. The effector mechanisms governing T-cell-mediated damage in APS-1 remain poorly understood. METHODS: We examined whether APS-1 could be classified as a disease mediated by interferon-γ...
May 30, 2024: New England Journal of Medicine