Results 1 to 10 of about 929 (159)

Case report: VEXAS syndrome: an atypical indolent presentation as sacroiliitis with molecular response to azacitidine

Frontiers in Immunology
João Eurico Fonseca, Fonseca João Eurico   +1 more
exaly  

Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports

Rheumatology
Sophie Georgin-Lavialle, Christian Lavigne, Valentin Lacombe   +2 more
exaly  

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 Temple, Olivier Kosmider, Kosmider Olivier   +2 more
exaly   +3 more sources

VEXAS Syndrome—Review

Global Medical Genetics, 2023
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem
Zhang Zhang, Dong Dong, Wang Wang
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

What should neurologists expect to observe in relapsing polychondritis and VEXAS? [PDF]

Frontiers in Immunology
Relapsing polychondritis (RP) and VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) are two clinically overlapping conditions in which neurological complications remain uncommon.
Mickael Bonnan, Quang Tuan Rémy Nguyen, Etienne Crickx, Etienne Crickx   +3 more
doaj   +2 more sources

VEXAS syndrome with cutaneous nodules

Dermatology Reports, 2021
Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered.
Yahya Argobi
doaj   +4 more sources

VEXAS syndrome: a diagnostic puzzle

RMD Open, 2023
The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells.
Martin Krusche, Nikolas Ruffer
doaj   +3 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, Walter Stoiber, Astrid Obermayer, Gregor Öberseder, Bernd Lamprecht   +5 more
doaj   +2 more sources