Results 21 to 30 of about 4,126 (198)

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge [PDF]

Frontiers in Immunology
BackgroundVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly recognized adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. It typically presents in older males with systemic inflammation,
Xianghong Jin, Xianyong Jiang, Yaping Liu, Miao Chen, Jiayuan Dai, Jin Xu, Min Shen   +6 more
doaj   +2 more sources

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review [PDF]

Modern Rheumatology Case Reports, 2021
ABSTRACT Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene.
Farah Shaukat, Melissa Hart, Timothy F. Burns, Pankaj Bansal   +3 more
openalex   +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

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]

Brain, 2018
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J., Gillingwater, Thomas H., Groen, Ewout J. N., Lamont, Douglas J., Llavero Hurtado, Maica, Schiavo, Giampietro, Shorrock, Hannah K., Sleigh, James N., van der Hoorn, Dinja, Wirth, Brunhilde, Wishart, Thomas M.   +10 more
core   +6 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

Rapid growth of acquired UBA1 mutations predisposes male patients to low-risk MDS [PDF]

Leukemia
Abstract VEXAS (vacuoles, E1-ubiquitin-like modifier activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory disorder caused by acquired UBA1 mutations in hematopoietic precursor cells. The prevalence, clinical significance, and genomic landscape of UBA1variants in patients with hematologic ...
Peng Li, Alnoor Fnu, Wei Xie, Margaret S. Williams, Julie Feusier Feusier, Yi Ding, Xiangrong Zhao, Gang Zheng, Zhao Chen, Arthur Zieski, Youli Zu, Philipp W. Raess, Srinivas K. Tantravahi, Afaf E.G. Osman, Ami B. Patel, Tsewang Tashi, Jay Patel, Anna Matynia, Madhu P. Menon, Rodney R. Miles, Jeffrey Jacobsen, Tracy I. George, Douglas W. Sborov, Philippe Szankasi, Paul M. Rindler, Devin Close, Robert S. Ohgami   +26 more
openalex   +3 more sources

Analysis of a temperature‐sensitive mutation in Uba1: Effects of the click reaction on subsequent immunolabeling of proteins involved in DNA replication [PDF]

FEBS Open Bio, 2015
In our previous study, a Met‐to‐Ile substitution at amino acid 256 in the catalytic domain of Uba1 was determined in temperature‐sensitive CHO‐K1 mutant tsTM3 cells, which exhibited chromosomal instability and cell‐cycle arrest in the S to G2 phases with decreased DNA synthesis at the nonpermissive temperature, 39 °C.
Kimihiko Sugaya, Yoshie Ishihara, Sonoe Inoue   +2 more
openalex   +4 more sources

UBA1 Mutations Drive RIPK1-Mediated Cell Death and Monocyte Dysfunction in VEXAS Syndrome [PDF]

Abstract VEXAS syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in UBA1 gene, disrupting cytoplasmic ubiquitin-activating enzyme E1 function in hematopoietic progenitors. The pathogenesis remains poorly understood, particularly how UBA1 mutations perturb myeloid function.
Paul Breillat, Samuel J. Magaziner, Stéphane M. Camus, Léa Dionet, Benjamin De Valence, Pierre Sohier, Amine Majdi, Quentin Delcros, Federica Pallotti, Nadia Rivet, Kévin Chevalier, Margot Poux, Pierre‐Louis Tharaux, Olivia Lenoir, Abdelrahim Zoued, Olivier Kosmider, David B. Beck, Benjamin Terrier   +17 more
openalex   +2 more sources

Unmasking VEXAS syndrome: a rare case with crescentic glomerulonephritis [PDF]

European Journal of Case Reports in Internal Medicine
Introduction: VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammation, and somatic) syndrome is a newly recognized autoinflammatory hematologic condition due to mutations in the UBA1 gene.
Tattvam Shah
doaj   +2 more sources

VEXAS Syndrome Presenting With Pleuritis [PDF]

Clinical Case Reports
Elderly men with pleuritis, systemic inflammation, cytopenias, and bone‐marrow vacuolization may have VEXAS due to somatic UBA1 mutations. Pulmonary involvement, including pleuritis, can be a key presentation despite the absence of classic chondritis ...
Makoto Ito, Yasushi Murakami, Michita Suzuki, Takahiko Yasuda, Norio Takagi   +4 more
doaj   +2 more sources