{
  "abstract": "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. Methods: Patients screened for UBA1 mutations between December 2019 and January 2023 in 7 Normandie (France) hospitals were recruited retrospectively. Results: Thirty patients with a haematological disorder associated with dysimmune manifestations were included: 17 (57%) without UBA1 mutations (non-VEXAS) and 13 (43%) with UBA1 mutations (VEXAS). Thirteen (77%) non-VEXAS patients had joint involvement (arthralgia/arthritis), compared with 4 (31%) VEXAS patients (p value: 0.016). Unsupervised clustering using hierarchical clustering identified two clusters. Cluster 1 (14 patients) had more joint involvement (93% vs 25%, p value: 0.001), less UBA1 mutation (14% vs 69%, p value: 0.008), pulmonary involvement (7% vs 50%, p value: 0.017), chondritis (0% vs 50%, p value: 0.003) and unprovoked venous thrombosis (7% vs 43%, p value: 0.039) than cluster 2 (16 patients). Cluster 1 had more ASXL1 mutations (21% vs 0%). Conclusion: Joint involvement was more frequent in patients with clonal haematopoiesis and dysimmune manifestations unrelated to VEXAS syndrome.",
  "authors": [
    {
      "affiliations": [
        "Department of Rheumatology, University Hospital Centre Rouen, Rouen, Normandy, France",
        "Regenerative Medicine and Skeleton Laboratory, RMeS, UMR 1229, Nantes Université, Oniris, CHU Nantes, INSERM, Regenerative Medicine and Skeleton, F-44000, Nantes, France"
      ],
      "name": "Baptiste de Maleprade"
    },
    {
      "affiliations": [
        "Department of Rheumatology, University Hospital Centre Rouen, Rouen, Normandy, France"
      ],
      "name": "Fabien Jastrzebski"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, University Hospital Centre Rouen, Rouen, Normandy, France"
      ],
      "name": "Ygal Benhamou"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, University Hospital Centre Rouen, Rouen, Normandy, France"
      ],
      "name": "Gaetan Sauvetre"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, Hospital Centre Dieppe, Dieppe, Normandy, France"
      ],
      "name": "Benjamin Membrey"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, Intercommunal Hospital Centre Elbeuf-Louviers-Val de Reuil Elbeuf-Les Feugrais Site, Saint-Aubin-lès-Elbeuf, Normandy, France"
      ],
      "name": "Marine Avenel"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, CH Eure-Seine, Évreux, Normandy, France"
      ],
      "name": "Alexandre Curie"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, Saint Hilaire Clinic, Rouen, France"
      ],
      "name": "Guillaume Armengol"
    },
    {
      "affiliations": [
        "Department of Rheumatology, University Hospital Centre Rouen, Rouen, Normandy, France"
      ],
      "name": "Pauline Brevet"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, Groupe Hospitalier du Havre, Le Havre, Normandy, France"
      ],
      "name": "Vincent Langlois"
    },
    {
      "affiliations": [
        "Department of Rheumatology, University Hospital Centre Rouen, Rouen, Normandy, France"
      ],
      "name": "Thierry Lequerre"
    },
    {
      "affiliations": [
        "Department of Hematology, Centre Henri Becquerel, Rouen, France"
      ],
      "name": "Aspasia Stamatoullas-Bastard"
    },
    {
      "affiliations": [
        "Department of Hematology, Centre Henri Becquerel, Rouen, France"
      ],
      "name": "Fabrice Jardin"
    },
    {
      "affiliations": [
        "Department of Rheumatology, University Hospital Centre Rouen, Rouen, Normandy, France"
      ],
      "name": "Olivier Vittecoq"
    }
  ],
  "title": "Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort",
  "uid": "c3995f4c-48a8-5638-8137-4212ca325d50"
}