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

May 2024 in “ New England Journal of Medicine ”

Vasileios Oikonomou, Grace Smith, Gregory 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 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

interferon-γ autoimmune polyendocrine syndrome type 1 AIRE deficiency JAK inhibitor ruxolitinib alopecia CXCL9 T-cell thyroiditis Jakafi

Studysummary This study investigated the impact of the JAK inhibitor ruxolitinib on APS-1 patients, reporting that treatment decreased excessive T-cell-derived interferon-γ, normalized inflammatory markers, and led to remission of several autoimmune symptoms without serious adverse effects.

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research AIRE Deficiency Leads to the Development of Alopecia Areata-Like Lesions in Mice

2 citations , October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that Aire‒/‒ mice spontaneously developed persistent AA-like lesions, highlighting a potential role for AIRE in hair follicle biology and pathogenesis of alopecia areata.

research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients

31 citations , May 2021 in “Journal of endocrinological investigation”

This study in Italy found that APS-1, a rare disorder, is associated with various AIRE gene mutations and most individuals have autoantibodies such as IFNωAbs, which are markers of the condition.