Results 1 to 10 of about 2,223 (207)

Case report: Cytopenias in VEXAS syndrome - a WHO 2022 based approach in a single-center cohort [PDF]

Frontiers in Immunology
VEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS
Elisa Diral, Corrado Campochiaro, Corrado Campochiaro, Alessandro Tomelleri, Alessandro Tomelleri, Gregorio M. Bergonzi, Gregorio M. Bergonzi, Umberto Pizzano, Umberto Pizzano, Maurilio Ponzoni, Maurilio Ponzoni, Lucia Bongiovanni, Lucia Bongiovanni, Paola Ronchi, Cristina Tresoldi, Silvia Rigamonti, Federico Scarfò, Federico Scarfò, Gloria M. Latino, Emma Rinaldi, Massimo Bernardi, Lorenzo Dagna, Lorenzo Dagna, Fabio Ciceri, Fabio Ciceri   +24 more
doaj   +5 more sources

Patients with VEXAS diagnosed in a Danish tertiary rheumatology setting have highly elevated inflammatory markers, macrocytic anaemia and negative autoimmune biomarkers [PDF]

RMD Open, 2022
Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is an autoinflammatory condition with overlapping features of rheumatology and haematology caused by somatic mutations in the UBA1 gene.
Ellen-Margrethe Hauge, Anne Troldborg, Fruzsina Szabados, Mads Nyhuus Bendix Rasch, Jens Magnus Bernth Jensen, Kirstine Overgaard Nielsen   +5 more
doaj   +5 more sources

VEXAS Syndrome: A Novelty in MDS Landscape

Diagnostics, 2022
Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1 ...
Marie Templé, Olivier Kosmider
doaj   +3 more sources

Clinical and laboratory markers to distinguish VEXAS from Schnitzler's syndrome: data from the AIDA network registries [PDF]

Frontiers in Medicine
BackgroundA substantial overlap in demographic, clinical, and laboratory features can complicate the differential diagnosis between Schnitzler's syndrome and VEXAS syndrome.
Valeria Caggiano, Valeria Caggiano, Jessica Sbalchiero, Jessica Sbalchiero, Micol Frassi, Eduardo Martín-Nares, Andrea Hinojosa-Azaola, Mariusz Sikora, Karina Jahnz-Różyk, Francesca Crisafulli, Franco Franceschini, Paolo Airò, Guillermo Arturo Guaracha-Basañez, Jiram Torres-Ruiz, Paolo Sfriso, Sara Bindoli, Chiara Baggio, José Hernández-Rodríguez, Verónica Gómez Caverzaschi, Gerard Espinosa, Henrique A. Mayrink Giardini, Rafael Alves Cordeiro, Andrés González-García, Mercedes Peña Rodríguez, Giuseppe Lopalco, Florenzo Iannone, Ombretta Viapiana, Abdurrahman Tufan, Hamit Kucuk, Pravin Hissaria, Pravin Hissaria, Mark Beecher, Mark Beecher, Amato De Paulis, Amato De Paulis, Ilaria Mormile, Lorenzo Dagna, Lorenzo Dagna, Corrado Campochiaro, Corrado Campochiaro, Antonio Gidaro, Leyla La Cava, Serena Bugatti, Serena Bugatti, Alessandra Milanesi, Alessandra Milanesi, Guillermo Ruiz-Irastorza, Guillermo Ruiz-Irastorza, Matteo Piga, Fabrizio Conti, Paolo Moscato, Daniela Opris-Belinski, Rosetta Vitetta, Cecilia Chighizola, Andreas Recke, Andreas Recke, Fernando Tornero-Romero, Marcella Prete, Marcello Govoni, Giacomo Emmi, Giacomo Emmi, Giacomo Emmi, Perla Ayumi Kawakami-Campos, Paola Triggianese, Paola Triggianese, Carmelo Gurnari, Carmelo Gurnari, Gaafar Ragab, Gaafar Ragab, Alberto Balistreri, Alberto Balistreri, Marcin Ziȩtkiewicz, Marcin Ziȩtkiewicz, Ewa Wiesik-Szewczyk, Bruno Frediani, Bruno Frediani, Claudia Fabiani, Claudia Fabiani, Anna Sicuranza, Anna Sicuranza, Monica Bocchia, Monica Bocchia, Luca Cantarini, Luca Cantarini, Antonio Vitale, Antonio Vitale   +85 more
doaj   +2 more sources

Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort [PDF]

RMD Open
Objective: To describe the joint manifestations associated with clonal haematopoiesis and to compare patients with and without VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.
Olivier Vittecoq, Fabrice Jardin, Thierry Lequerre, Ygal Benhamou, Vincent Langlois, Baptiste de Maleprade, Gaetan Sauvetre, Pauline Brevet, Fabien Jastrzebski, Benjamin Membrey, Marine Avenel, Alexandre Curie, Guillaume Armengol, Aspasia Stamatoullas-Bastard   +13 more
doaj   +2 more sources

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

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, Gregor Öberseder, Bernd Lamprecht   +3 more
doaj   +2 more sources

A patient with VEXAS syndrome presenting with complete ophthalmoplegia [PDF]

European Journal of Case Reports in Internal Medicine
Introduction: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified, somatic mutation-driven, autoinflammatory syndrome primarily affecting older males.
James Krzowski, Luke Harvey, Emily Mitchell, Vivek Rajagopal   +3 more
doaj   +2 more sources

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   +2 more sources

A fatal case of VEXAS syndrome with a brief review [PDF]

Journal of Vascular Surgery Cases and Innovative Techniques
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described adult-onset autoinflammatory condition characterized by somatic mutations in the X-linked UBA1 gene.
Grant Stoltman, BA, Rashid Skeik, BS, Jesse Manunga, MD, Nedaa Skeik, MD   +3 more
doaj   +2 more sources

Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next‐Generation Sequencing [PDF]

eJHaem
Background VEXAS syndrome is an adult‐onset, X‐linked autoinflammatory disorder resulting from somatic variations in the UBA1 gene. Aim To evaluate the adequacy of the digital PCR (dPCR) to follow up the variant allele frequency (VAF) on response to the ...
Alba Exposito‐Bey, Marco Antonio Montes‐Cano, Salvador Payán‐Pernía, José Raúl García‐Lozano, María Francisca González‐Escribano   +4 more
doaj   +2 more sources