Results 1 to 10 of about 2,243 (119)

A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome [PDF]

Frontiers in Medicine
BackgroundVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in the X-linked UBA1 gene, most commonly affecting codon 41.
Luisa Agnello, Luisa Agnello, Caterina Maria Gambino, Caterina Maria Gambino, Lidia La Barbera, Anna Masucci, Roberta Vassallo, Francesco Cacciabaudo, Mauro Midiri, Concetta Scazzone, Anna Maria Ciaccio, Giuliana Guggino, Marcello Ciaccio, Marcello Ciaccio   +13 more
doaj   +2 more sources

Trisomy 8 clonal expansion during disease progression and azacitidine resistance in VEXAS syndrome: a case report [PDF]

Frontiers in Immunology
BackgroundVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder driven by clonal hematopoiesis with somatic UBA1 mutations.
Keijiro Sato, Yoshitaka Zaimoku, Yoshitaka Zaimoku, Yui Kano, Miku Kobayashi, Shintaro Kazama, Takahiro Morikawa, Hiroko Kazumoto, Wataru Ishii, Toshimitsu Ueki, Masahiko Sumi, Hikaru Kobayashi, Yasuhito Nannya, Seishi Ogawa, Seishi Ogawa, Seishi Ogawa, Naoaki Ichikawa   +16 more
doaj   +2 more sources

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

A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome

Human Genome Variation
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway.
Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi   +8 more
doaj   +2 more sources

The profile of clinical and laboratory features of Chinese VEXAS syndrome patients with hematological abnormalities: a single-center case series [PDF]

Frontiers in Immunology
ObjectivesVEXAS syndrome is a recently characterized hemato-inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene in hematopoietic cells, which remains poorly characterized in Chinese populations. This study aims to address this gap.
Xiang Ren, Xiang Ren, Xiang Ren, Min Wang, Min Wang, Min Wang, Jiali Huo, Jiali Huo, Jiali Huo, Yujiao Jia, Yujiao Jia, Jigang Xiao, Jigang Xiao, Neng Nie, Neng Nie, Neng Nie, Jinbo Huang, Jinbo Huang, Jinbo Huang, Jing Zhang, Jing Zhang, Jing Zhang, Xin Zhao, Xin Zhao, Xin Zhao, Liwei Fang, Liwei Fang, Liwei Fang, Guangxin Peng, Guangxin Peng, Guangxin Peng, Li Zhang, Li Zhang, Li Zhang, Fengkui Zhang, Fengkui Zhang, Fengkui Zhang, Yizhou Zheng, Yizhou Zheng, Yizhou Zheng, Jun Shi, Jun Shi, Jun Shi, Meili Ge, Meili Ge, Meili Ge   +45 more
doaj   +2 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

De-escalation of corticosteroids and clonal remission in UBA1 mutation-driven VEXAS syndrome with 5-azacytidine [PDF]

Haematologica
Not available.
Roochi Trikha, Kar Lok Kong, James Galloway, Tanya N. Basu, Lynn Quek, Jamie Wilson, Louise Gamble, Henna Wong, Steven Best, Austin Kulasekararaj   +9 more
doaj   +2 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, Walter Stoiber, Astrid Obermayer, Gregor Öberseder, Bernd Lamprecht   +5 more
doaj   +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

Systematic search for the UBA1 mutation in men after a first episode of venous thromboembolism: A monocentric study [PDF]

Journal of Thrombosis and Haemostasis, 2022
Lina Khider, Marie Temple, Cecile Bally   +2 more
exaly   +2 more sources