Results 61 to 70 of about 865 (130)

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis

Frontiers in Immunology
VEXAS syndrome is a newly described autoinflammatory entity characterized by somatic mutations in the UBA1 X-linked gene in hematopoietic progenitor cells.
Chiara Baggio, Chiara Baggio, Francesca Oliviero, Francesca Oliviero, Roberto Padoan, Roberto Padoan, Luca Iorio, Luca Iorio, Riccardo Bixio, Giovanni Orsolini, Eugenia Bertoldo, Eugenia Bertoldo, Cristina Bernardi, Davide Colavito, Barbara Paiero, Giovanna Pregnolato, Roberta Ramonda, Roberta Ramonda, Andrea Doria, Andrea Doria, Sara Bindoli, Sara Bindoli, Paolo Sfriso, Paolo Sfriso   +23 more
doaj   +1 more source

VEXAS Syndrome: A Comprehensive Review of Clinical Mimickers and Differential Diagnosis at the Rheumatology–Haematology Interface

Journal of Education, Health and Sport
VEXAS syndrome is a newly described autoimmune disorder in adults caused by a somatic mutation in the UBA1 gene located on the X chromosome, occurring almost exclusively in older men.
Hanna Aleksandrowicz, Zuzanna Kalinowska, Julia Sokołowska , Karolina Karska, Katarzyna Grunwald, Marcel Dawidowicz   +5 more
doaj   +1 more source

Safety and effectiveness of the combination of 5‐azacitidine and ruxolitinib in VEXAS syndrome: A single‐centre experience

British Journal of Haematology, Volume 208, Issue 3, Page 1133-1137, March 2026.
Gregorio Maria Bergonzi, Enrico Cozzo, Alessandro Tomelleri, Costanza Piccolo, Gianluca Scorpio, Carmelo Gurnari, Francesca Romano, Marco Matucci‐Cerinic, Lorenzo Dagna, Massimo Bernardi, Luca Vago, Fabio Ciceri, Corrado Campochiaro, Elisa Diral   +13 more
wiley   +1 more source

VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation

Nature Communications
Acquired mutations in the UBA1 gene were recently identified in patients with severe adult-onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). However, the precise physiological and clinical impact of
Olivier Kosmider, Céline Possémé, Marie Templé, Aurélien Corneau, Francesco Carbone, Eugénie Duroyon, Paul Breillat, Twinu-Wilson Chirayath, Bénédicte Oules, Pierre Sohier, Marine Luka, Camille Gobeaux, Estibaliz Lazaro, Roderau Outh, Guillaume Le Guenno, François Lifermann, Marie Berleur, Melchior Le Mene, Chloé Friedrich, Cédric Lenormand, Thierry Weitten, Vivien Guillotin, Barbara Burroni, Jeremy Boussier, Lise Willems, Selim Aractingi, Léa Dionet, Pierre-Louis Tharaux, Béatrice Vergier, Pierre Raynaud, Hang-Korng Ea, Mickael Ménager, Darragh Duffy, Benjamin Terrier   +33 more
doaj   +1 more source

VEXAS Syndrome and Substance Use Disorders: A Large‐Scale, Propensity‐Matched, Case‐Control Analysis Revealing Immune‐Mediated Comorbidities

International Journal of Dermatology, Volume 65, Issue 3, Page 584-586, March 2026.
Kritin K. Verma, Kevin T. Nguyen, Daniel P. Friedmann, Helen Chen, Michelle B. Tarbox   +4 more
wiley   +1 more source

Case Report: Diagnostic challenges in VEXAS syndrome with novel ultrastructural lung findings: IgG4-RD and vasculitis as relevant differential diagnoses

Frontiers in Immunology
VEXAS syndrome is a rare, adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. Patients may present with symptoms similar to IgG4-related disease (IgG4-RD) or systemic vasculitis. We report the case of a 70-year-old man who
Peter Etzel, David Lang, Walter Stoiber, Astrid Obermayer, Gregor Öberseder, Bernd Lamprecht   +5 more
doaj   +1 more source

Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality

ACR Open Rheumatology
VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid‐lineage progenitors ...
Laura Di Centa, Simone Longhino, Valeria Manfrè, Stefania Sacco, Luca Quartuccio   +4 more
doaj   +1 more source

ORAL COMMUNICATION | Intravenous immunoglobulin for cutaneous features of VEXAS syndrome: a case report

Italian Journal of Medicine
Background. VEXAS syndrome is an autoinflammatory disorder caused by somatic mutations in the UBA1 gene and is characterized by severe inflammation and hematologic disorders with systemic manifestations.
G. Duro, M. Quarta, E. Chiara, N. Di Meo, M. Poiani, M. L. Urban, F. Zaja, F. Zanconati, V. Zerbato, G. Emmi   +9 more
doaj   +1 more source

VEXAS syndrome: Focus on dermatological manifestations and their histopathological correlate

JEADV Clinical Practice
Background 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 more
doaj   +1 more source

VEXAS without vacuoles: Linking genotype to phenotype

eJHaem
Introduction VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin‐like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within ...
Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel   +3 more
doaj   +1 more source