The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1

• Published in: The New England journal of medicine Vol. 390; no. 20; pp. 1873 - 1884
• Main Authors: Oikonomou, Vasileios, Smith, Grace, Constantine, Gregory, Schmitt, Monica, Ferré, Elise M.N., Alejo, Julie, Riley, Deanna, Kumar, Dhaneshwar, dos Santos Dias, Lucas, Pechacek, Joseph, Hadjiyannis, Yannis, Webb, Taura, Seifert, Bryce, Ghosh, Rajarshi, Walkiewicz, Magdalena, Martin, Daniel, Besnard, Marine, Snarr, Brendan, Deljookorani, Shiva, Lee, Chyi-Chia, Dimaggio, Tom, Barber, Princess, Rosen, Lindsey, Cheng, Aristine, Rastegar, Andre, de Jesus, Adriana, Stoddard, Jennifer, Kuehn, Hye Sun, Break, Timothy, Kong, Heidi, Castelo-Soccio, Leslie, Colton, Ben, Warner, Blake, Kleiner, David, Quezado, Martha, Davis, Jeremy, Fennelly, Kevin, Olivier, Kenneth, Rosenzweig, Sergio, Suffredini, Anthony, Anderson, Mark, Swidergall, Marc, Guillonneau, Carole, Notarangelo, Luigi, Goldbach-Mansky, Raphaela, Neth, Olaf, Monserrat-Garcia, Maria Teresa, Valverde-Fernandez, Justo, Lucena, Jose Manuel, Gomez-Gila, Ana Lucia, Garcia Rojas, Angela, Seppänen, Mikko, Lohi, Jouko, Hero, Matti, Laakso, Saila, Klemetti, Paula, Lundberg, Vanja, Ekwall, Olov, Olbrich, Peter, Winer, Karen, Afzali, Behdad, Moutsopoulos, Niki, Holland, Steven, Heller, Theo, Pittaluga, Stefania, Lionakis, Michail
• Format: Journal Article
• Language: English
• Published: Massachusetts Medical Society 30.05.2024
• Subjects: Adolescent; Adult; AIRE Protein / deficiency; AIRE Protein / genetics; AIRE Protein / immunology; Animals; Autoantibodies / blood; Autoantibodies / immunology; Chemokine CXCL9 / genetics; Child; Disease Models, Animal; Female; Humans; Interferon-gamma / genetics; Interferon-gamma / immunology; Janus Kinase Inhibitors / therapeutic use; Life Sciences; Male; Mice; Mice, Knockout; Middle Aged; Nitriles / therapeutic use; Pilot Projects; Polyendocrinopathies, Autoimmune / drug therapy; Polyendocrinopathies, Autoimmune / genetics; Polyendocrinopathies, Autoimmune / immunology; Pyrazoles / pharmacology; Pyrazoles / therapeutic use; Pyrimidines / therapeutic use; T-Lymphocytes / immunology; Transcription Factors / genetics; Transcription Factors / immunology

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...