Results 71 to 80 of about 954 (158)

Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront

Molecular Medicine
VEXAS syndrome, an uncommon yet severe autoimmune disorder stemming from a mutation in the UBA1 gene, is the focus of this paper. The overview encompasses its discovery, epidemiological traits, genetic underpinnings, and clinical presentations.
Xiao Xiao Li, Wen Hui Huang, Xiao Bin Yang, Qi Lin Yang, Yu Zheng, Yong Bao Huo, Ting Ting Xie, Cheng Hui Huang, Shui Lian Yu   +8 more
doaj   +1 more source

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

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   +1 more source

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

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   +1 more source

VEXAS without vacuoles: Linking genotype to phenotype

eJHaem
Introduction VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin‐like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within ...
Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel   +3 more
doaj   +1 more source

DP059 | AN ITALIAN CARTOGRAPHY OF VEXAS-RELATED THROMBOSIS: A 218 PATIENT-YEARS ANALYSIS

Haematologica
While thrombotic events (TE) occur in up to 40% of VEXAS cases, a scarcity of data exists on its clinical-genomic associations or anti-coagulation strategies.
G. Ranucci, V. Forte, E. Diral, C. Campochiaro, J. Ferrari, M. Cuccaro, C. Cattaneo, F. Crisafulli, L. Cardillo, V. Renola, M. R. Pascale, P. Musto, S. Barbato, G. Battipaglia, M. Frigeni, E. Morsia, A. Savi, C. Papayannidis, E. Crisà, L. Cicconi, A. Fiumarella, A. Pierini, M. Breccia, G. Orsolini, G. Rivoli, S. Bindoli, D. Firinu, A. Vitale, M. Bocchia, L. Cantarini, G. Todisco, P. Triggianese, M. T. Voso, C. Gurnari   +33 more
doaj  

Efficacy and safety profile of biotechnological agents and Janus kinase inhibitors in VEXAS syndrome: data from the international AIDA Network VEXAS registry

Frontiers in Pharmacology
BackgroundVEXAS syndrome, a recently identified systemic autoinflammatory disorder, poses new diagnostic and management challenges. Based on experience with other autoinflammatory diseases, anti-interleukin (IL)-1, anti-IL-6, anti-tumor necrosis factor ...
Antonio Vitale, Antonio Vitale, Valeria Caggiano, Valeria Caggiano, Flavia Leone, 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, Corrado Campochiaro, Corrado Campochiaro, Alessandro Tomelleri, Alessandro Tomelleri, Micol Frassi, Franco Franceschini, Francesca Crisafulli, José Hernández-Rodríguez, Verónica Gómez-Caverzaschi, Olga Araújo, Paolo Sfriso, Sara Bindoli, Chiara Baggio, Jurgen Sota, Jurgen Sota, Abdurrahman Tufan, Hamit Kucuk, 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, Giuseppe Lopalco, Florenzo Iannone, Sara Monti, Sara Monti, Carlomaurizio Montecucco, Carlomaurizio Montecucco, 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, Guido Rovera, Edoardo Conticini, Edoardo Conticini, Francesco La Torre, Piero Portincasa, Nour Jaber, Gaafar Ragab, Gaafar Ragab, Amina Maher, Amina Maher, Ezgi Deniz Batu, Seza Ozen, Ewa Wiesik-Szewczyk, Alejandra de-la-Torre, Alberto Balistreri, Alberto Balistreri, Bruno Frediani, Bruno Frediani, Claudia Fabiani, Claudia Fabiani, Luca Cantarini, Luca Cantarini   +83 more
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Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality

ACR Open Rheumatology
VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid‐lineage progenitors ...
Laura Di Centa, Simone Longhino, Valeria Manfrè, Stefania Sacco, Luca Quartuccio   +4 more
doaj   +1 more source

A vexing case of a 73‐year‐old man with fevers, orbital cellulitis, and asymptomatic interstitial lung disease

Respirology Case Reports
VEXAS (Vacuoles, E1 enzyme, X‐linked, Autoinflammatory, Somatic) syndrome is a rare and recently identified disease resulting from a somatic mutation in the X‐linked UBA1 gene in cells of myeloid lineage.
Sushil Agwan, Lai‐Ying Zhang, Thomas Baker, Michael Lane, David Godbolt, John A. Mackintosh   +5 more
doaj   +1 more source

PO60 | VEXAS SYNDROME AS A NEW SEVERE THROMBOPHILIC CLONAL CONDITION: A SINGLE CENTRE EXPERIENCE

Bleeding, Thrombosis and Vascular Biology
Introduction. VEXAS syndrome is an autoinflammatory condition first described in 2020. Reported VTE incidence is from 35 to 57%. Little is known about the best anticoagulant duration, intensity and risk of recurrence. Aim To describe the incidence of VTE
Chiara Ambaglio
doaj  

Allogeneic hematopoietic stem cell transplantation for VEXAS syndrome: A review and a case report. [PDF]

Clin Hematol Int
Nagae K, Muranushi H, Nannya Y, Maeda T.
europepmc   +1 more source