ArticleBlood2023
Spectrum of clonal hematopoiesis in VEXAS syndrome.
Article in Blood, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 4 of them syntheses that pooled it.
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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.
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.
Who cites it
75 citing papers in PubMed, 4 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review.British journal of haematology · 2026Pooled it
- American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.Arthritis & rheumatology (Hoboken, N.J.) · 2026Guideline
- Clinical features in VEXAS syndrome: a systematic review.Rheumatology (Oxford, England) · 2025Pooled it
- The role ofInternal and emergency medicine · 2024Pooled it
- Myelodysplasia in VEXAS syndrome.Blood advances · 2026Review
- Somatic Variants in Immune Dysregulation: An Ongoing Challenge.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- SomaticBlood neoplasia · 2026Article
- VEXAS syndrome unmasked from relapsing polychondritis and infection mimicry: a case-based review.Rheumatology international · 2026Review
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- A 2026 update on myelodysplastic neoplasms: current state, challenges and future directions.Nature reviews. Clinical oncology · 2026Review
- Clonal haematopoiesis and risk of incident rheumatoid arthritis: results from the UK Biobank.Clinical and experimental rheumatology · 2026Article
- Macrocytosis combined with monoclonal gammopathy identifies patients carrying VEXAS-linkedHemaSphere · 2026Article
- Review
- Inflammageing and clonal haematopoiesis interplay and their impact on human disease.Nature reviews. Molecular cell biology · 2026Review
- Clonal Hematopoiesis of Indeterminate Potential (CHIP): A Model of Mutation-Driven Thromboinflammation.Cancers · 2026Review
- PAXIS: A Randomized, Double-Blind, Placebo-Controlled, Dose-Finding Phase 2 Study (Part 1) Followed by an Open-Label Period (Part 2) to Assess the Efficacy and Safety of Pacritinib in Patients with VEXAS Syndrome.Journal of clinical medicine · 2026Article
- Successful Treatment of Refractory Sweet's Syndrome With Adalimumab in a Myelodysplastic Syndrome Patient.EJHaem · 2026Article
- Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study.Arthritis & rheumatology (Hoboken, N.J.) · 2026Article
- Disease Trajectories and Glucocorticoid Exposure in VEXAS Syndrome Treated with Cytokine-Directed Therapies.Annals of the rheumatic diseases · 2026Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
36 authors at 10 institutions in 2 countries.
Funding
Abstract
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations in UBA1 (UBA1mut) and characterized by heterogenous systemic autoinflammation and progressive hematologic manifestations, meeting criteria for myelodysplastic syndrome (MDS) and plasma cell dyscrasias. The landscape of myeloid-related gene mutations leading to typical clonal hematopoiesis (CH) in these patients is unknown. Retrospectively, we screened 80 patients with VEXAS for CH in their peripheral blood (PB) and correlated the findings with clinical outcomes in 77 of them. UBA1mut were most common at hot spot p.M41 (median variant allele frequency [VAF] = 75%). Typical CH mutations cooccurred with UBA1mut in 60% of patients, mostly in DNMT3A and TET2, and were not associated with inflammatory or hematologic manifestations. In prospective single-cell proteogenomic sequencing (scDNA), UBA1mut was the dominant clone, present mostly in branched clonal trajectories. Based on integrated bulk and scDNA analyses, clonality in VEXAS followed 2 major patterns: with either typical CH preceding UBA1mut selection in a clone (pattern 1) or occurring as an UBA1mut subclone or in independent clones (pattern 2). VAF in the PB differed markedly between DNMT3A and TET2 clones (median VAF of 25% vs 1%). DNMT3A and TET2 clones associated with hierarchies representing patterns 1 and 2, respectively. Overall survival for all patients was 60% at 10 years. Transfusion-dependent anemia, moderate thrombocytopenia, and typical CH mutations, each correlated with poor outcome. In VEXAS, UBA1mut cells are the primary cause of systemic inflammation and marrow failure, being a new molecularly defined somatic entity associated with MDS. VEXAS-associated MDS is distinct from classical MDS in its presentation and clinical course.
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Registered trials
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.