Results 61 to 70 of about 929 (159)

A 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 Reports
Introduction 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 more
doaj   +1 more source

Case report: Cerebral sinus vein thrombosis in VEXAS syndrome

Frontiers in Medicine
VEXAS (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 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Vasculitis associated with VEXAS syndrome

Rheumatology
Abstract Objectives To define the prevalence, distribution and characteristics of patients with VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammation, somatic) syndrome who have confirmed vasculitis.
Megan M Sullivan, Carolyn Mead-Harvey, Julio C Sartori-Valinotti, Kambiz Kalantari, Yael N Kusne, Mrinal M Patnaik, Abhishek A Mangaonkar, Ronald S Go, Daniel Montes, Kaaren K Reichard, Horatiu Olteanu, Melanie C Bois, Alexander S Hines, Kenneth J Warrington, Matthew J Koster   +14 more
openaire   +2 more sources

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

A case of VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome presenting as progressive multisystem involvement with parenchymal infiltrates following infection with Epstein Barr virus

Respirology Case Reports
VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, and somatic) syndrome is a rare multisystem disease affecting predominantly males over 50 and manifesting as widespread progressive inflammatory sequelae and haematological dysfunction.
Jelena Solujic, Phan Nguyen, Peter Bardy, Yao Ly, Emily Lawton   +4 more
doaj   +1 more source

VEXAS anemia is a mosaic erythroblastopenia

Blood
Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently discovered autoinflammatory disorder linked to somatic mutations in the UBA1 gene, resulting in a profound cytoplasm-restricted defect in ubiquitylation.
François Rodrigues, Giulia Hardouin, Sara El Hoss, Aya Ghoul, Emilie-Fleur Gautier, Michaël Dussiot, Maria A. Lizarralde-Iragorri, Annalisa Santini, Sandy Peltier, Pascal Amireault, Vanessa Soldan, Annarita Miccio, Mounia Debili, Vincent Jachiet, Thiago Trovati Maciel, Julien Rossignol, Eric Allemand, Arsène Mekinian, Sophie Georgin-Lavialle, Mohammad Salma, Eric Soler, Pierre-Emmanuel Gleizes, Marie-Françoise O’Donohue, Olivier Kosmider, Manuel S. Rodriguez, Olivier Hermine, Jérome Hadjadj, Rim Bourguiba, Mael Heiblig, Chloé Mc Avoy, Valentin Lacombe, Samuel Ardois, Thibault Comont, Estibaliz Lazaro, Francois Lifermann, Guillaume Le, Herve Lobbes, Vincent Grobost, Roderau Outh, Yvan Jamilloux, Alexis Mathian, Jonathan Broner, Thomas Moulinet, Mikael Ebbo, Achille Aouba, François Chasset, Laurent Arnaud, Pierre Sujobert, Pierre Hirsch, Noémie Abisror, Pierre Fenaux, Olivier Kosmider, Vincent Jachiet, Olivier Fain, Benjamin Terrier, Sophie Georgin-Lavialle, Arsène Mekinian, Lin Pierre Zhao, Maxime Samson, Antoine Neel, Holy Bezanahary, Julien Rossignol, Shanti Ame, Alexandra Audemard-Verger, Ygal Benhamou, Jean David Bouaziz   +65 more
openaire   +4 more sources

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

Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront

Molecular Medicine
VEXAS syndrome, an uncommon yet severe autoimmune disorder stemming from a mutation in the UBA1 gene, is the focus of this paper. The overview encompasses its discovery, epidemiological traits, genetic underpinnings, and clinical presentations.
Xiao Xiao Li, Wen Hui Huang, Xiao Bin Yang, Qi Lin Yang, Yu Zheng, Yong Bao Huo, Ting Ting Xie, Cheng Hui Huang, Shui Lian Yu   +8 more
doaj   +1 more source

VEXAS syndrome as a cause for multifocal, relapsing head and neck inflammation

Clinical Case Reports
Key Clinical Message VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is a novel autoinflammatory syndrome. We describe a case of VEXAS syndrome with upper airway and oral cavity involvement which are not well described in the ...
Aoife Heeney, Rachael Wu, Conall Fitzgerald, Nina Orfali, Nadim Akasheh, Conor Magee   +5 more
doaj   +1 more source