Autoinflammatory & rare systemic diseases

Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort

RMD OpenPublished Retrospective cohort study

Authors' conclusion

Joint involvement was more frequent in patients with clonal haematopoiesis and dysimmune manifestations unrelated to VEXAS syndrome.

Study context

Population
Patients with a haematological disorder associated with dysimmune manifestations screened for UBA1 mutations, December 2019–January 2023, 7 Normandie (France) hospitals
Participants
30 patients
Exposure
Clonal haematopoiesis with UBA1 mutations vs without UBA1 mutations
  • Non-VEXASn = 17
  • VEXASn = 13reference
  • Cluster 1n = 14
  • Cluster 2n = 16reference
Outcome
Joint involvement (arthralgia/arthritis)
Methodological detailsmulticentre, unsupervised hierarchical clustering
  • Multicentre
  • Unsupervised hierarchical clustering

Main finding

As reported in the abstract

p value: 0.016

Observational data: associations, not effects.

Further findings

OutcomeCluster 1Cluster 2P value
Clusters: joint involvementCluster 1 vs Cluster 293%25%p value: 0.001
Clusters: UBA1 mutationCluster 1 vs Cluster 214%69%p value: 0.008
Clusters: pulmonary involvementCluster 1 vs Cluster 27%50%p value: 0.017
Clusters: chondritisCluster 1 vs Cluster 20%50%p value: 0.003
Clusters: unprovoked venous thrombosisCluster 1 vs Cluster 27%43%p value: 0.039
Clusters: ASXL1 mutations21%0%

Original publication

Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort. RMD Open. Published 29 October 2025. doi:10.1136/rmdopen-2025-006074

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