{
  "abstract": "BackgroundVEXAS syndrome is a late onset autoinflammatory disease caused by somatic UBA1 mutations and characterized by heterogeneous systemic and hematologic manifestations. We aimed to describe all identified Belgian cases through a national multicenter cohort.\n\nMethodsWe conducted a retrospective study across four Belgian tertiary centers. Clinical, biological, genetic, therapeutic, and outcome data were collected using standardized anonymized case report forms. Analyses were descriptive.\n\nResultsTwenty-one male patients were identified between January 2018 and May 2025. General symptoms such as Fatigue, weight loss and sweating occurred in 95% of cases. The most frequent manifestations were cutaneous (85.7%), hematologic (76.2%), articular (66.7%), thromboembolic (57.1%), chondritis (42.9%), ophthalmologic (38.1%), pulmonary (38.1%). Other manifestations also included vasculitis (61.9%). At diagnosis, 95% had anemia, macrocytic in 57%, and 28.6% had thrombocytopenia. Corticosteroids were the main first-line therapy. Second-line treatments included anti-IL-6 agents (46.7%), JAK inhibitors (20%), and azacitidine (14.3%). Complete remission occurred in 50% of patients receiving anti-IL-6 therapy and in 33% treated with either JAK inhibitors or azacitidine. Two patients underwent allogeneic stem cell transplantation, one died from infectious complications. Twenty-six infectious episodes were recorded, including opportunistic infections. Six patients (28.6%) died during follow-up, four from infectious complications.\n\nConclusionThis first Belgian national cohort confirms the clinical heterogeneity of VEXAS syndrome and highlights substantial infectious morbidity and mortality. Access to targeted second-line therapies, particularly anti-IL-6 agents and JAK inhibitors, remains challenging despite apparent clinical benefit.",
  "abstract_shown": true,
  "affiliations": [
    "Hopitaux Universitaires de Bruxelles"
  ],
  "article_type": "PUBLISHAHEADOFPRINT",
  "arxiv": null,
  "author_total": 11,
  "authors": [
    {
      "name": "L. Funaro"
    },
    {
      "name": "L. Naesens"
    },
    {
      "name": "A. Betrains"
    },
    {
      "name": "B. Vokaer"
    },
    {
      "name": "B. Couturier"
    },
    {
      "name": "O. Malaise"
    },
    {
      "name": "G. Vertenoeil"
    },
    {
      "name": "F. Lambert"
    },
    {
      "name": "R. Lattenist"
    },
    {
      "name": "F. Vandergheynst"
    },
    {
      "affs": [
        0
      ],
      "name": "L. Wolff"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/bn050rbab3za1.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.08.26.26361409",
  "fulltext_url": "https://www.medrxiv.org/content/10.64898/2026.08.26.26361409v1.full",
  "id": "bn050rbab3za1",
  "issns": [],
  "landing_url": "https://www.medrxiv.org/content/10.64898/2026.08.26.26361409v1",
  "language": null,
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "medrxiv",
      "allergy and immunology"
    ],
    [
      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
  ],
  "openalex": "W7204812463",
  "pdf_url": "https://www.medrxiv.org/content/10.64898/2026.08.26.26361409v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-08-26",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/bn050rbab3za1.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:24Z",
      "native_id": "10.64898/2026.08.26.26361409",
      "source": "medrxiv",
      "url": "https://www.medrxiv.org/content/10.64898/2026.08.26.26361409v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    }
  ],
  "title": "Clinical Spectrum, Treatments and Outcomes of VEXAS Syndrome: A Multicenter Belgian Cohort",
  "title_text": "Clinical Spectrum, Treatments and Outcomes of VEXAS Syndrome: A Multicenter Belgian Cohort",
  "type": "preprint",
  "updated_at": "2026-10-30T12:17:37Z",
  "url": "https://research.draconitic.com/paper/bn050rbab3za1",
  "venue": "medRxiv",
  "versions": []
}