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American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel
Arthritis &Rheumatology, Volume 78, Issue 3, Page 509-522, March 2026.Objective
Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heiblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson +111 morewiley +1 more sourceMacrocytosis combined with monoclonal gammopathy identifies patients carrying VEXAS‐linked UBA1 mutations
HemaSphere, Volume 10, Issue 7, July 2026.Verena Petzer, Wolfram Mayr, Eva Spoegler, Emina Jukic, Christoph Winkler, Verena Vogi, Normann Steiner, Christina Duftner, Andrea Griesmacher, Günter Weiss, Dominik Wolf, Florian Kocher, David Haschka +12 morewiley +1 more sourceVEXAS syndrome: Focus on dermatological manifestations and their histopathological correlate
JEADV Clinical PracticeBackground VEXAS ‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’ is a rare autoinflammatory syndrome, first described in October 2020 by Beck et al.Sofie Engelen, Anne‐Catherine Dens, Frederik Staels, Rik Schrijvers, Daniel Blockmans, Steven Vanderschueren, Albrecht Betrains, F. J. Sherida H. Woei‐A‐Jin, Arno Vanstapel, Franscesca Bosisio, Petra De Haes +10 moredoaj +1 more sourceEfficacy and safety of conventional disease-modifying antirheumatic drugs in VEXAS syndrome: real-world data from the international AIDA network
Frontiers in PharmacologyBackgroundVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset autoinflammatory condition resulting in severe, often treatment-refractory inflammation.Antonio Vitale, Antonio Vitale, Flavia Leone, Valeria Caggiano, Valeria Caggiano, Andrea Hinojosa-Azaola, Eduardo Martín-Nares, Guillermo Arturo Guaracha-Basañez, Jiram Torres-Ruiz, Perla Ayumi Kawakami-Campos, Pravin Hissaria, Pravin Hissaria, Alicia Callisto, Alicia Callisto, Mark Beecher, Mark Beecher, Lorenzo Dagna, Lorenzo Dagna, Alessandro Tomelleri, Alessandro Tomelleri, Corrado Campochiaro, Corrado Campochiaro, Micol Frassi, Francesca Crisafulli, Franco Franceschini, José Hernández-Rodríguez, Verónica Gómez-Caverzaschi, Olga Araújo, Paolo Sfriso, Sara Bindoli, Chiara Baggio, Jessica Sbalchiero, Jessica Sbalchiero, Jurgen Sota, Jurgen Sota, Abdurrahman Tufan, Ibrahim Vasi, Matteo Piga, Matteo Piga, Alberto Cauli, Alberto Cauli, Maria Antonietta D’Agostino, Amato De Paulis, Amato De Paulis, Ilaria Mormile, Henrique A. Mayrink Giardini, Rafael Alves Cordeiro, Francesco Gavioli, Francesco Gavioli, Giuseppe Lopalco, Florenzo Iannone, Carlomaurizio Montecucco, Sara Monti, Guillermo Ruiz-Irastorza, Guillermo Ruiz-Irastorza, Adriana Soto-Peleteiro, Adriana Soto-Peleteiro, Paola Triggianese, Paola Triggianese, Carmelo Gurnari, Carmelo Gurnari, Ombretta Viapiana, Riccardo Bixio, Rosetta Vitetta, Edoardo Conticini, Edoardo Conticini, Francesco La Torre, Gaafar Ragab, Gaafar Ragab, Ezgi Deniz Batu, Andrés González-García, Mercedes Peña-Rodríguez, Monica Bocchia, Monica Bocchia, Ewa Wiesik-Szewczyk, Karina Jahnz-Rózyk, Alejandra de-la-Torre, Alberto Balistreri, Alberto Balistreri, Bruno Frediani, Bruno Frediani, Claudia Fabiani, Claudia Fabiani, Luca Cantarini, Luca Cantarini +84 moredoaj +1 more sourceCase report: Cerebral sinus vein thrombosis in VEXAS syndrome
Frontiers in MedicineVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic) syndrome is a newly described hemato-inflammatory acquired monogenic entity that presents in adulthood. One of the main features of VEXAS syndrome is a high venous thromboembolism (VTE) Michael Zisapel, Michael Zisapel, Estelle Seyman, Jeremy Molad, Jeremy Molad, Hen Hallevi, Hen Hallevi, Michal Mauda-Havakuk, Michal Mauda-Havakuk, Tali Jonas-Kimchi, Tali Jonas-Kimchi, Ori Elkayam, Ori Elkayam, Tali Eviatar, Tali Eviatar +14 moredoaj +1 more sourceA clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report
Journal of Medical Case ReportsIntroduction VEXAS syndrome, characterized by a UBA1 gene mutation, is a rare and severe systemic inflammatory disease predominantly affecting men. Since its initial description in 2020, it has been noted for its broad clinical phenotype and frequent ...Melanie Berger, Falk Schumacher, Maximilian Wollsching-Strobel, Doreen Kroppen, Sarah B. Stanzel, Daniel S. Majorski, Kathrin Fricke, Ilka Plath, Wolfram Windisch, Maximilian Zimmermann +9 moredoaj +1 more source