Results 11 to 20 of about 940 (155)

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 Presenting With Pleuritis. [PDF]

Clin Case Rep
ABSTRACT 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, and early ...
Ito M, Murakami Y, Suzuki M, Yasuda T, Takagi N.   +4 more
europepmc   +4 more sources

Vasculitis associated with VEXAS syndrome. [PDF]

Rheumatology (Oxford)
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.
Sullivan MM, Mead-Harvey C, Sartori-Valinotti JC, Kalantari K, Kusne YN, Patnaik MM, Mangaonkar AA, Go RS, Montes D, Reichard KK, Olteanu H, Bois MC, Hines AS, Warrington KJ, Koster MJ.   +14 more
europepmc   +3 more sources

Is immunotherapy safe and effective in patients with VEXAS syndrome? [PDF]

Journal for ImmunoTherapy of Cancer
The use of immune checkpoint inhibitors in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is unknown. Concerns are particularly about their safety, due to their potential capacity to exacerbate inflammatory symptoms.
Chiara Marvisi, Francesco Muratore, Carlo Salvarani, Davide Nicoli, Enrico Farnetti, Lucia Spaggiari, Vincenza Ylenia Cusenza, Orsola Bonanno, Maria Banzi, Caterina Longo   +9 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
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   +3 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

VEXAS-Syndrom [PDF]

Zeitschrift für Rheumatologie, 2022
ZusammenfassungDas VEXAS-Syndrom ist eine neu identifizierte autoinflammatorische Systemerkrankung. Das Akronym VEXAS steht hier für Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. Die Erkrankung beruht auf einer erworbenen somatischen Mutation des UBA1-Gens.
M. Zeeck, I. Kötter, M. Krusche
openaire   +2 more sources

Case report: VEXAS syndrome: first documented cases in Latin America

Frontiers in Hematology
IntroductionVEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene.
Carolina Ottati, Inés Gervaz, Inés Gervaz, Martín Yandian, Martín Yandian, Matilde Boada, Matilde Boada, Gabriela Vidal-Senmache, Percy Ortiz-Guerra, Ana I. Catalán, Patricia Kutscher, Diego Lopez, Lilian Diaz, Sofia Grille, Sofia Grille   +14 more
doaj   +3 more sources

VEXAS syndrome

International Journal of Hematology
Abstract VEXAS syndrome is a recently identified, adult-onset autoinflammatory disease caused by somatic mutations in UBA1. UBA1 is an X-linked gene encoding E1 ubiquitin activating enzyme and its mutation in hematopoietic stem and progenitor cells leads to their clonal expansion and myeloid-skewed differentiation. UBA1 mutations in VEXAS are
Hideaki Nakajima, Hiroyoshi Kunimoto
  +9 more sources

Thrombosis in VEXAS syndrome [PDF]

Journal of Thrombosis and Thrombolysis, 2021
VEXAS syndrome, an autoinflammatory syndrome due to a Ubiquitin Like Modifier Activating Enzyme 1 (UBA1) somatic mutation, has a high thrombotic burden. We report a case of a 69-year-old male that was diagnosed with VEXAS syndrome who developed venous thromboembolism (VTE).
Thet Mon Oo, Jie Tian Jeanette Koay, Siew Fen Lee, Shang Ming Samuel Lee, Xin Rong Lim, Bingwen Eugene Fan   +5 more
openaire   +2 more sources