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 M., Schmitt, Monica M., Ferré, Elise M.N., Alejo, Julie C., Riley, Deanna, Kumar, Dhaneshwar, Dos Santos Dias, Lucas, Pechacek, Joseph, Hadjiyannis, Yannis, Webb, Taura, Seifert, Bryce A., Ghosh, Rajarshi, Walkiewicz, Magdalena, Martin, Daniel, Besnard, Marine, Snarr, Brendan D., Deljookorani, Shiva, Lee, Chyi-chia R., DiMaggio, Tom, Barber, Princess, Rosen, Lindsey B., Cheng, Aristine, Rastegar, Andre, de Jesus, Adriana A., Stoddard, Jennifer, Kuehn, Hye Sun, Break, Timothy J., Kong, Heidi H., Castelo-Soccio, Leslie, Colton, Ben, Warner, Blake M., Kleiner, David E., Quezado, Martha M., Davis, Jeremy L., Fennelly, Kevin P., Olivier, Kenneth N., Rosenzweig, Sergio D., Suffredini, Anthony F., Anderson, Mark S., Swidergall, Marc, Guillonneau, Carole, Notarangelo, Luigi D., Goldbach-Mansky, Raphaela, Neth, Olaf, Monserrat-Garcia, Maria Teresa, Valverde-Fernandez, Justo, Lucena, Jose Manuel, Gomez-Gila, Ana Lucia, Garcia Rojas, Angela, Seppänen, Mikko R. J., Lohi, Jouko, Hero, Matti, Laakso, Saila, Klemetti, Paula, Lundberg, Vanja, Ekwall, Olov, Olbrich, Peter, Winer, Karen K., Afzali, Behdad, Moutsopoulos, Niki M., Holland, Steven M., Heller, Theo, Pittaluga, Stefania, Lionakis, Michail S.
• Format: Journal Article
• Language: English
• Published: United States Massachusetts Medical Society 30.05.2024
• Subjects: Adolescent; Adolescent Medicine; Adrenal Disease; Adult; AIRE Protein; AIRE Protein - deficiency; AIRE Protein - genetics; AIRE Protein - immunology; Allergy; Alopecia; Animals; Autoantibodies; Autoantibodies - blood; Autoantibodies - immunology; Autoimmune; Autoimmune Disease; Autoimmunity; Baldness; blood; Candidiasis; Chemokine CXCL9; Chemokine CXCL9 - genetics; Child; Childhood Diseases; Clinical Medicine; Clinical Medicine General; Clonal selection; Constipation; Cytokines; Dermatology; Dermatology General; Disease Models, Animal; drug therapy; Dystrophy; Endocrinology; Endocrinology General; Enteritis; FDA approval; Female; Gastritis; Gastroenterology; Gastroenterology General; Gene expression; Genes; Genetics; Genetics General; Humans; Hybridization; Hypotheses; Immunity; Immunologi inom det medicinska området; Immunology; Immunology General; Immunology in the medical area; Infectious diseases; Inflammation; Inflammatory Bowel Disease; Inflammatory Disease; Interferon; Interferon-gamma; Interferon-gamma - genetics; Interferon-gamma - immunology; Janus kinase; Janus Kinase Inhibitors; Janus Kinase Inhibitors - therapeutic use; Kinases; Knockout; Life Sciences; Lymphocytes; Lymphocytes T; Male; metabolism; Mice; Mice, Knockout; Middle Aged; Mortality; Nitriles; Nitriles - therapeutic use; Outpatient-Based Clinical Medicine; Patients; Pediatrics; Pediatrics General; Pediatrik; pharmacology; Pilot Projects; Polyendocrinopathies; Polyendocrinopathies, Autoimmune - drug therapy; Polyendocrinopathies, Autoimmune - genetics; Polyendocrinopathies, Autoimmune - immunology; Pyrazoles; Pyrazoles - pharmacology; Pyrazoles - therapeutic use; Pyrimidines; Pyrimidines - therapeutic use; Remission; Rheumatology; Rheumatology General; Sjogren's syndrome; T-Cells; T-Lymphocytes; T-Lymphocytes - immunology; Teenagers; therapeutic use; Thymus; Thyroid Disease; Thyroiditis; Transcription Factors; Transcription Factors - genetics; Transcription Factors - immunology; Urticaria; γ-Interferon
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa2312665

In this study, interferon-γ was found to play a large role in the pathogenesis of APS-1. Results were confirmed in studies in animals and led to a trial of ruxolitinib in five patients, who had dramatic responses.