Results 1 to 10 of about 954 (158)

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

Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from China [PDF]

Orphanet Journal of Rare Diseases
Background VEXAS syndrome is a severe autoinflammatory disease characterized by systemic inflammation, rheumatic manifestations, and hematologic abnormalities. Its clinical heterogeneity and overlap with other conditions complicate diagnosis.
Menghui Yao, Min Shen, Chengjin Huang, Yang Jiao, Yue Sha, Xianyong Jiang, Xiaoxi Yang, Jun Feng, Na Xu, Weiguo Zhu, Valentin Lacombe, Jose Manuel Mascaro, Juan I. Arostegui, Yun Zhang, Xuejun Zeng   +14 more
doaj   +2 more sources

Vasculitis associated with VEXAS syndrome: A literature review

Frontiers in Medicine, 2022
Vasculitis is an inflammatory disorder of the blood vessels that causes damage to a wide variety of organs through tissue ischemia. Vasculitis is classified according to the size (large, medium, or small) of the blood vessels.
Ryu Watanabe, Motomu Hashimoto, Watanabe Ryu   +2 more
exaly   +3 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

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

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

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
Corrado Campochiaro, Maurilio Ponzoni, Massimo Bernardi   +2 more
exaly   +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

Neutrophils take center stage in VEXAS syndrome pathogenesis [PDF]

The Journal of Clinical Investigation
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset inflammatory disorder caused by somatic UBA1 mutations in hematopoietic stem cells. UBA1 encodes a key enzyme that catalyzes protein ubiquitination.
Ajay Tambralli, Jason S. Knight
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

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