ArticleLeukemia2023
Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies.
Article in Leukemia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
What it found
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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
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- 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
- Myelodysplasia in VEXAS syndrome.Blood advances · 2026Review
- What Explains the Pattern of Fibrosis in Chronic Graft-Versus-Host Disease?Clinical transplantation · 2026Review
- SomaticBlood neoplasia · 2026Article
- Review
- VEXAS syndrome.Nature reviews. Disease primers · 2026Review
- Review
- A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report.The American journal of case reports · 2026Article
- VEXAS Syndrome for the laboratory physician: a case report.Frontiers in immunology · 2026Article
- UBA1 as a proteostasis-innate immunity checkpoint: lessons from vexas syndrome and therapeutic implications.Frontiers in immunology · 2026Review
- Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population.British journal of haematology · 2026Article
- The profile of clinical and laboratory features of Chinese VEXAS syndrome patients with hematological abnormalities: a single-center case series.Frontiers in immunology · 2026Article
- Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.Leukemia · 2025Article
- Review
- Expert Perspective: Hematologic Malignancies and Vasculitis.Arthritis & rheumatology (Hoboken, N.J.) · 2025Review
- VEXAS syndrome.International journal of hematology · 2025Review
- Prevalence and outcome of VEXAS syndrome in unrelated hematopoietic cell transplantation for bone marrow failure.Clinical and experimental medicine · 2025Article
- VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies.International journal of molecular sciences · 2025Review
- Myeloid neoplasm inspired intensive therapy in VEXAS syndrome: A single-centre experience.British journal of haematology · 2025Article
- Real-world outcomes of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome at a tertiary referral centre.British journal of haematology · 2025Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
UBA1 is an X-linked gene and encodes an ubiquitin-activating enzyme. Three somatic mutations altering the alternative start codon (M41) in UBA1 in hematopoietic precursor cells have recently been described, resulting in a syndrome of severe inflammation, cytopenias, and the presence of intracellular vacuoles in hematopoietic precursors - termed VEXAS syndrome, a predominantly male disease. Here we present a patient with clinical features of VEXAS who harbored two novel somatic variants in UBA1 (I894S and N606I). To better understand the clinical relevance and biological consequences of non-M41 (UBA1
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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.