ArticleArthritis & rheumatology (Hoboken, N.J.)2021
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Article in Arthritis & rheumatology (Hoboken, N.J.), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 4 of them syntheses that pooled it.
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Who cites it
96 citing papers in PubMed, 4 syntheses or guidelines pooled it, 229 citations in OpenAlex.
- Diagnosis and treatment strategies for airway involvement in relapsing polychondritis: a comprehensive review.Frontiers in immunology · 2026Pooled it
- 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
- Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review.Rheumatology international · 2023Pooled it
- Early-onset VEXAS syndrome mimicking orbital cellulitis and successfully treated with allogeneic hematopoietic stem cell transplantation.Journal of hematopathology · 2026Article
- VEXAS Syndrome: Clues to Avoid Vexation.Journal of cutaneous pathology · 2026Review
- An Italian cartography of VEXAS-related thrombosis.HemaSphere · 2026Article
- Macrocytosis combined with monoclonal gammopathy identifies patients carrying VEXAS-linkedHemaSphere · 2026Article
- A neurologist's guide to VEXAS syndrome: Differentiating somatic autoinflammation from autoimmune mimics.Intractable & rare diseases research · 2026Review
- VEXAS syndrome.Nature reviews. Disease primers · 2026Review
- Review
- Disease Trajectories and Glucocorticoid Exposure in VEXAS Syndrome Treated with Cytokine-Directed Therapies.Annals of the rheumatic diseases · 2026Article
- UBA1 as a proteostasis-innate immunity checkpoint: lessons from vexas syndrome and therapeutic implications.Frontiers in immunology · 2026Review
- Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD.Frontiers in immunology · 2026Article
- What should neurologists expect to observe in relapsing polychondritis and VEXAS?Frontiers in immunology · 2026Review
- Coexistence of VEXAS Syndrome and Chronic Hepatitis B Virus Infection: a Case Report and Literature Review.Clinical reviews in allergy & immunology · 2025Review
- Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.American journal of clinical pathology · 2025Article
- From diagnostic uncertainty to targeted therapy: a case-based review of VEXAS syndrome.Rheumatology international · 2025Review
- VEXAS syndrome.International journal of hematology · 2025Review
- Exploring patient-reported outcomes and morbidity burden of patients with VEXAS syndrome: a scoping review.EClinicalMedicine · 2025Review
36 more citing papers are in PubMed but not listed here.
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Authors and funding
35 authors at 6 institutions in 2 countries.
Funding
Abstract
objectiveSomatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome). More than 50% of patients currently identified as having VEXAS met diagnostic criteria for relapsing polychondritis (RP), but clinical features that characterize VEXAS within a cohort of patients with RP have not been defined. We undertook this study to define the prevalence of somatic mutations in UBA1 in patients with RP and to create an algorithm to identify patients with genetically confirmed VEXAS among those with RP.
methodsExome and targeted sequencing of UBA1 was performed in a prospective observational cohort of patients with RP. Clinical and immunologic characteristics of patients with RP were compared based on the presence or absence of UBA1 mutations. The random forest method was used to derive a clinical algorithm to identify patients with UBA1 mutations.
resultsSeven of 92 patients with RP (7.6%) had UBA1 mutations (referred to here as VEXAS-RP). Patients with VEXAS-RP were all male, were on average ≥45 years of age at disease onset, and commonly had fever, ear chondritis, skin involvement, deep vein thrombosis, and pulmonary infiltrates. No patient with VEXAS-RP had chondritis of the airways or costochondritis. Mortality was greater in VEXAS-RP than in RP (23% versus 4%; P = 0.029). Elevated acute-phase reactants and hematologic abnormalities (e.g., macrocytic anemia, thrombocytopenia, lymphopenia, multiple myeloma, myelodysplastic syndrome) were prevalent in VEXAS-RP. A decision tree algorithm based on male sex, a mean corpuscular volume >100 fl, and a platelet count <200 ×10
conclusionMutations in UBA1 were causal for disease in a subset of patients with RP. This subset of patients was defined by disease onset in the fifth decade of life or later, male sex, ear/nose chondritis, and hematologic abnormalities. Early identification is important in VEXAS given the associated high mortality rate.
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