Results 11 to 20 of about 1,455 (196)

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

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   +5 more sources

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 Templé, Olivier Kosmider
doaj   +3 more sources

VEXAS syndrome in a woman

Rheumatology, 2021
International ...
Barba, Thomas, Jamilloux, Yvan, Durel, Cécile-Audrey, Bourbon, Estelle, Mestrallet, Fanélie, Sujobert, Pierre, Hot, Arnaud   +6 more
openaire   +6 more sources

Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry [PDF]

Seminars in Arthritis and Rheumatism
VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS patients.
Antonelli I. P. D. B., Baggio C., Balistreri A., Beecher M., Bindoli S., Bixio R., Bocchia M., Caggiano V., Callisto A., Campochiaro C., Cantarini L., Caroni F., Casa F. D., Casamassima G., Cauli A., Ciccia F., Conticini E., Crisafulli F., Dagna L., De Paulis A., de-la-Torre A., Fabiani C., Fiorenza A., Fonollosa A., Franceschini F., Frassi M., Frediani B., Giardini H. A. M., Gomez-Caverzaschi V., Gurnari C., Hernandez-Rodriguez J., Hinojosa-Azaola A., Hissaria P., Iannone F., Kawakami-Campos P. A., Lopalco G., Martin-Nares E., Mejia-Salgado G., Milanesi A., Monti S., Mormile I., Pelegrin L., Piga M., Ragab G., Renieri A., Ruiz-Irastorza G., Ruscitti P., Sbalchiero J., Sfriso P., Sota J., Soto-Peleteiro A., Tomelleri A., Tosi G. M., Triggianese P., Tufan A., Vasi I., Viapiana O., Vitale A., Vitetta R., Wiesik-Szewczyk E., Yildirim D.   +60 more
core   +6 more sources

VEXAS Syndrome and Alzheimer’s Disease—Are There Connections? [PDF]

Brain Sciences
VEXAS syndrome and Alzheimer’s disease (AD), though distinct in clinical manifestations, share overlapping pathophysiological mechanisms, including systemic inflammation, protein misfolding, and vascular dysfunction.
Aleksandra Sowa, Marta Malicka, Magdalena Biernacka, Jan Aleksander Beszłej, Jerzy Leszek   +4 more
doaj   +2 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: Cerebral sinus vein thrombosis in VEXAS syndrome [PDF]

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   +3 more sources

VEXAS syndrome in a Moroccan patient: the story of a two-year diagnostic lag [PDF]

European Journal of Case Reports in Internal Medicine
Background: VEXAS syndrome, also known as vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome, is a newly identified genetic condition characterised by a combination of autoinflammatory symptoms and myeloid dysplasia.
Abire Allaoui, Lilia Zizi, Halima Hadri, Doha Kabil, Ahmed Aziz Bousfiha, Abdelhamid Naitlho, Mohamed Adnaoui   +6 more
doaj   +2 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

Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population [PDF]

British Journal of Haematology, Volume 208, Issue 1, Page 116-128, January 2026.
\ua9 2025 The Author(s). British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.Somatic mutations in UBA1 are linked to VEXAS syndrome, a late-onset inflammatory disorder with rheumatological and ...
Al-Hakim A, Cargo C, Chang L, Francis S, Kent DG, Kulasekararaj A, Lachmann H, Lok Kong K, Martinez Rodriguez A, McGregor A, Omoyinmi E, Poulter JA, Rowczenio D, Savic S, Smith A, Trikha R   +15 more
core   +2 more sources