Evidence map›Paper›PMID 41409287›Full record

ArticleFrontiers in immunology2025

VEXAS syndrome in rheumatology practice: features from a multicenter cohort in north-east Italy.

Sara Bindoli, Greta Morello-Pasin, Irina Guidea, Roberto Padoan, Luca Iorio, Riccardo Bixio, Giovanni Orsolini, Federica Maiolini, Sara Lombardi, Sandra Lombardi and 6 more

Abstract readMulticenter Study
In one paragraph

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Sara BindoliRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Greta Morello-PasinRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Irina GuideaRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Roberto PadoanRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Luca IorioRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Riccardo BixioUnit of Rheumatology, IRCCS Sacro Cuore Don Calabria Hospital, Verona, Italy.
Giovanni OrsoliniRheumatology Unit, Department of Medicine, Università degli Studi di Verona, Verona, Italy.
Federica MaioliniUnit of Internal Medicine B, Department of Medicine, Università degli Studi di Verona, Verona, Italy.
Sara LombardiGeneral Medicine Unit, Girolamo Fracastoro Hospital, AULSS9 Scaligera, Verona, Italy.
Sandra LombardiStruttura Complessa Medicina Interna, Gorizia Hospital, Gorizia, Italy.
Marta FaveroRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Cristina BernardiRheumatology Unit, San Giovanni e Paolo Hospital, Venice, Italy.
Bernd RaffeinerDepartment of Rheumatology, Teaching Hospital of the Paracelsius Medical Hospital of Bolzano (ASAA-SABES), Bolzano, Italy.
Andrea DoriaRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Roberta RamondaRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.
Paolo SfrisoRheumatology Unit, Azienda Ospedale Università di Padova, Padova, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a late-onset autoinflammatory disorder caused by somatic mutations in the Methods: We conducted a retrospective analysis of 37 patients over the age of 50. Next-Generation Sequencing (Illumina HiSeq2500) was employed to assess mutations. Clinical, genetic, and demographic data were extracted from electronic medical records. Results: Twenty patients [100% male; median age 73 years (IQR 67-77)] were confirmed to carry somatic Conclusion: This study underscores the need for a phenotype-driven diagnostic approach to facilitate earlier identification of VEXAS syndrome. Our findings suggest that current estimates of prevalence in rheumatology settings may significantly underestimate the true disease burden. Improved awareness and interdisciplinary collaboration, particularly among rheumatologists, hematologists, and dermatologists, are essential to enhance recognition, diagnosis, and comprehensive care for individuals affected by this complex syndrome.

Indexed as

Hereditary Autoinflammatory DiseasesUbiquitin-Activating EnzymesAgedFemaleHumansItalyMaleMiddle AgedMutationMyelodysplastic SyndromesRetrospective StudiesRheumatologySkin Diseases, GeneticUBA1 protein, humanUbiquitin-Activating Enzymeschondritisgeneticshematologic abnormalitiesinflammationVEXAS syndrome

Identifiers

PMID41409287
PMCPMC12705374

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.