ArticleAnnals of the rheumatic diseases2023
Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about
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Article in Annals of the rheumatic diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 4 of them syntheses that pooled it.
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38citing papers in PubMed, 4 pooled it
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Who cites it
38 citing papers in PubMed, 4 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.Arthritis & rheumatology (Hoboken, N.J.) · 2026Guideline
- Clinical features in VEXAS syndrome: a systematic review.Rheumatology (Oxford, England) · 2025Pooled it
- Vacuolated Marrow Cytopenias from Copper Deficiency toInternational journal of molecular sciences · 2025Pooled it
- Emerging treatment approaches for VEXAS syndrome: a systematic review and meta-analysis.Annals of hematology · 2025Pooled it
- Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from China.Orphanet journal of rare diseases · 2026Article
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- VEXAS Syndrome: Clinical Features, Hematologic Involvement, and Clinical Outcomes of Current and Emerging Therapies.Hematology reports · 2026Review
- VEXAS syndrome.Nature reviews. Disease primers · 2026Review
- Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Trisomy 8 clonal expansion during disease progression and azacitidine resistance in VEXAS syndrome: a case report.Frontiers in immunology · 2026Article
- The profile of clinical and laboratory features of Chinese VEXAS syndrome patients with hematological abnormalities: a single-center case series.Frontiers in immunology · 2026Article
- Recurrent fever and association with severe organ involvement, mortality and treatment outcomes in VEXAS syndrome: data from the AIDA Network.Frontiers in immunology · 2026Article
- Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD.Frontiers in immunology · 2026Article
- Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next-Generation Sequencing.EJHaem · 2025Article
- Neutrophils take center stage in VEXAS syndrome pathogenesis.The Journal of clinical investigation · 2025Article
- Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort.RMD open · 2025Article
- Coexistence of VEXAS Syndrome and Chronic Hepatitis B Virus Infection: a Case Report and Literature Review.Clinical reviews in allergy & immunology · 2025Review
- Diagnostic and Monitoring Strategies for VEXAS Syndrome: Evaluating Sanger Sequencing, NGS, and the SWIM-Score.Journal of clinical immunology · 2025Article
- Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.Journal of clinical immunology · 2025Article
- Prevalence and outcome of VEXAS syndrome in unrelated hematopoietic cell transplantation for bone marrow failure.Clinical and experimental medicine · 2025Article
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Authors and funding
51 authors at 20 institutions in 3 countries.
Jose Manuel MascaroDepartment of Dermatology, Hospital Clínic, Barcelona, Spain.
Ignasi Rodriguez-PintoDepartment of Internal Medicine, Hospital Mútua de Terrassa, Terrassa, Spain.
Gabriela PozaDepartment of Internal Medicine, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
Anna Mensa-VilaroInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
Julian Fernandez-MartinDepartment of Internal Medicine, Hospital Álvaro Cunqueiro, Vigo, Spain.ORCID 0000-0002-9391-4316
Luis Caminal-MonteroDepartment of Internal Medicine, Hospital Universitario Central de Asturias, Oviedo, Spain.
Gerard EspinosaInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.ORCID 0000-0003-1336-0163
Jose Hernández-RodríguezInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.ORCID 0000-0002-2357-2015
Marina DiazDepartment of Haematology, Hospital Clínic, Barcelona, Spain.
Joana Rita-MarquesDepartment of Internal Medicine, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Raimon SanmartiInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.ORCID 0000-0002-8864-3806
Santos CastañedaDepartment of Rheumatology, Hospital Universitario La Princesa, Madrid, Spain.ORCID 0000-0002-7748-853X
Dolores ColungaDepartment of Internal Medicine, Hospital Universitario Central de Asturias, Oviedo, Spain.
Rubén Coto-HernándezDepartment of Internal Medicine, Hospital Universitario Central de Asturias, Oviedo, Spain.
Patricia FanloDepartment of Internal Medicine, Hospital Universitario de Navarra, Pamplona, Spain.
Jose Ignacio ElejaldeDepartment of Internal Medicine, Hospital Universitario de Navarra, Pamplona, Spain.
Segundo BujanDepartment of Internal Medicine, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Ignasi FiguerasDepartment of Dermatology, Hospital de Bellvitge, Barcelona, Spain.
Francisco Manuel MarcoDepartment of Immunology, Hospital General Universitario de Alicante Dr Balmis, Alicante, Spain.
Mariano AndrésAlicante Institute for Health and Biomedical Research, Alicante, Spain.ORCID 0000-0002-0219-9055
Silvia SuárezDepartment of Internal Medicine, Hospital Valle del Nalón, Langreo, Spain.ORCID 0000-0002-8558-5452
Andres Gonzalez-GarciaSystemic Autoimmune Diseases Unit, Department of Internal Medicine, Hospital Universitario Ramón y Cajal | IRYCIS, Madrid, Spain.
Xavier Fustà-NovellDepartment of Dermatology, Althaia Foundation of Manresa, Manresa, Spain.
Clara Garcia-BelandoDepartment of Rheumatology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
Ana GranadosDepartment of Internal Medicine, Hospital Universitari Parc Taulí, Sabadell, Spain.
Maria Teresa Fernandez-FiguerasDepartment of Pathology, Hospital Universitari General de Catalunya San Cugat del Valles, Sant Cugat del Valles, Spain.
Neus QuilisDepartment of Rheumatology, Hospital Universitari de Vinalopo, Elche, Spain.ORCID 0000-0001-7509-7212
Maria Orriols-CabaDepartment of Internal Medicine, Hospital comarcal Alt Penedès, Consorci Sanitari Alt Penedès-Garraf, Vilafranca del Penedès, Spain.
Ricardo Gómez de la TorreDepartment of Autoimmune Diseases, Hospital Universitario Central de Asturias, Oviedo, Spain.
Maria Cinta CidInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.ORCID 0000-0002-4730-0938
Georgina Espígol-FrigoléInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
Alba Alvarez-AbellaDepartment of Dermatology, Hospital Mútua de Terrassa, Terrassa, Spain.
Eztizen LabradorDepartment of Rheumatology, Hospital San Pedro, Logrono, Spain.
Maria RozmanInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
Monica Lopez-GuerraInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
Paola CastilloDepartment of Pathology, Hospital Clínic, Barcelona, Spain.
Jose R Alamo-MorenoDepartment of Pathology, Hospital Clínic, Barcelona, Spain.
Eva Gonzalez-RocaInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
Susana PlazaDepartment of Immunology, Hospital Clínic, Barcelona, Spain.
Virginia FabregatDepartment of Immunology, Hospital Clínic, Barcelona, Spain.
Rocio LaraDepartment of Immunology, Hospital Clínic, Barcelona, Spain.
Esther F Vicente-RabanedaDepartment of Rheumatology, Hospital Universitario La Princesa, Madrid, Spain.
Sonia Tejedor-VaqueroInstitut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.
Giuliana MagriInstitut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.
Nuria BonetGenomics Core Facility, Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
Manuel Solis-MorunoGenomics Core Facility, Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
Andrea CeruttiHospital del Mar Medical Research Institute, PRBB, Barcelona, Spain.
Oscar FornasFlow Cytometry Unit, Universitat Pompeu Fabra - Center of Genomic Regulation, Barcelona, Spain.ORCID 0000-0003-2017-9100
Ferran CasalsDepartament de Genètica, Microbiologia i Estadística, Faculty of Biology, University of Barcelona, Barcelona, Spain.
Jordi YagüeInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
Juan I ArósteguiInstitut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain jiaroste@clinic.cat.ORCID 0000-0003-4757-504X
Hospital Clínic de Barcelona · ESHospital Universitario Central de Asturias · ESUniversitat Pompeu Fabra · ESHospital del Mar Research Institute · ESHospital Universitario de La Princesa · ESHospital Universitario Virgen de la Arrixaca · ESUniversity Hospital Mútua de Terrassa · ESVall d'Hebron Hospital Universitari · ESAlthaia · ESBellvitge University Hospital · ESConsorci Sanitari Garraf · ESDeleted InstitutionHospital General de Catalunya · ESHospital General Universitario de Alicante Doctor Balmis · ESHospital San Pedro · ESHospital Universitario del Vinalopó · ESHospital Valle del Nalón · ESInstitució Catalana de Recerca i Estudis Avançats · ESInstitut de Biomedicina de la Universitat de BarcelonaInstituto Ramón y Cajal de Investigación Sanitaria · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic
objectivesTo investigate the presence of VEXAS syndrome among patients with adult-onset undiagnosed AID. Additional studies evaluated the mosaicism distribution and the circulating cytokines.
methodsGene analyses were performed by both Sanger and amplicon-based deep sequencing. Patients' data were collected from their medical charts. Cytokines were quantified by Luminex.
resultsGenetic analyses of enrolled patients (n=42) identified 30 patients carrying
conclusionThirty patients with adult-onset AID were definitively diagnosed with VEXAS syndrome through genetic analyses. Despite minor interindividual differences, their main characteristics were in concordance with previous reports. We detected for the first time the
Indexed as
ArthritisMosaicismAdultCytokinesFemaleFerritinsGlucocorticoidsHumansMaleMutationMyelodysplastic SyndromesSkin Diseases, GeneticCytokinesFerritinsGlucocorticoidsimmune system diseasesinflammationpolymorphism, genetic
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