Results 11 to 20 of about 2,223 (207)

VEXAS Syndrome—Review

Global Medical Genetics, 2023
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem
Zhang Zhang, Dong Dong, Wang Wang
doaj   +3 more sources

VEXAS syndrome with cutaneous nodules

Dermatology Reports, 2021
Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered.
Yahya Argobi
doaj   +4 more sources

VEXAS syndrome: a diagnostic puzzle

RMD Open, 2023
The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells.
Martin Krusche, Nikolas Ruffer
doaj   +3 more sources

Efficacy and safety of conventional disease-modifying antirheumatic drugs in VEXAS syndrome: real-world data from the international AIDA network [PDF]

Frontiers in Pharmacology
BackgroundVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset autoinflammatory condition resulting in severe, often treatment-refractory inflammation.
Antonio Vitale, Antonio Vitale, Flavia Leone, Valeria Caggiano, Valeria Caggiano, Andrea Hinojosa-Azaola, Eduardo Martín-Nares, Guillermo Arturo Guaracha-Basañez, Jiram Torres-Ruiz, Perla Ayumi Kawakami-Campos, Pravin Hissaria, Pravin Hissaria, Alicia Callisto, Alicia Callisto, Mark Beecher, Mark Beecher, Lorenzo Dagna, Lorenzo Dagna, Alessandro Tomelleri, Alessandro Tomelleri, Corrado Campochiaro, Corrado Campochiaro, Micol Frassi, Francesca Crisafulli, Franco Franceschini, José Hernández-Rodríguez, Verónica Gómez-Caverzaschi, Olga Araújo, Paolo Sfriso, Sara Bindoli, Chiara Baggio, Jessica Sbalchiero, Jessica Sbalchiero, Jurgen Sota, Jurgen Sota, Abdurrahman Tufan, Ibrahim Vasi, Matteo Piga, Matteo Piga, Alberto Cauli, Alberto Cauli, Maria Antonietta D’Agostino, Amato De Paulis, Amato De Paulis, Ilaria Mormile, Henrique A. Mayrink Giardini, Rafael Alves Cordeiro, Francesco Gavioli, Francesco Gavioli, Giuseppe Lopalco, Florenzo Iannone, Carlomaurizio Montecucco, Sara Monti, Guillermo Ruiz-Irastorza, Guillermo Ruiz-Irastorza, Adriana Soto-Peleteiro, Adriana Soto-Peleteiro, Paola Triggianese, Paola Triggianese, Carmelo Gurnari, Carmelo Gurnari, Ombretta Viapiana, Riccardo Bixio, Rosetta Vitetta, Edoardo Conticini, Edoardo Conticini, Francesco La Torre, Gaafar Ragab, Gaafar Ragab, Ezgi Deniz Batu, Andrés González-García, Mercedes Peña-Rodríguez, Monica Bocchia, Monica Bocchia, Ewa Wiesik-Szewczyk, Karina Jahnz-Rózyk, Alejandra de-la-Torre, Alberto Balistreri, Alberto Balistreri, Bruno Frediani, Bruno Frediani, Claudia Fabiani, Claudia Fabiani, Luca Cantarini, Luca Cantarini   +84 more
doaj   +5 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   +3 more sources

Navigating through uncertainty-Experience from the UK national VEXAS MDT. [PDF]

Br J Haematol
Summary The objective of this study was to describe the establishment, structure and influence of the United Kingdom national multidisciplinary team (MDT) for vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome and to assess its clinical outputs and perceived value among participating clinicians.
Pietsch D, Kulasekararaj A, Savic S, VEXNET‐UK MDT.   +3 more
europepmc   +2 more sources

Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review. [PDF]

Br J Haematol
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Hoff FW, Trikha R, Groarke EM, Patel BA.
europepmc   +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

VEXAS Syndrome

Blood, 2021
VEXAS syndrome is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients present with a range of inflammatory and hematologic symptoms (Visual Abstract). Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments,
Grayson, Peter C., Patel, Bhavisha A., Young, Neal S.   +2 more
openaire   +2 more sources

Hemi-Orolingual Angioedema in a Patient With VEXAS Syndrome. [PDF]

EJHaem
eJHaem, Volume 7, Issue 1, February 2026.
Suárez EU, Arquero-Portero T, Llamas-Sillero P.   +2 more
europepmc   +2 more sources