ReviewRheumatology (Oxford, England)2022
Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.
Review in Rheumatology (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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.
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Clinical management of clonal hematopoiesis.Cancer · 2026Review
- Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells.Circulation research · 2026Review
- The First Reported Case of VEXAS Syndrome in Lebanon: Efficacy of Azacitidine as a Therapeutic Option-Case Report.Case reports in hematology · 2026Article
- Addressing gaps in the diagnoses of genetic errors of immunity.Nature immunology · 2025Article
- [VEXAS syndrome].Zeitschrift fur Rheumatologie · 2025Review
- Clinical Challenges of Emerging Acquired Autoinflammatory Diseases, Including VEXAS Syndrome.Internal medicine (Tokyo, Japan) · 2025Review
- Cancer patients with clonal hematopoiesis die from primary malignancy or comorbidities despite higher rates of transformation to myeloid neoplasms.Cancer medicine · 2024Article
- "Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.Journal of clinical immunology · 2024Article
- Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report.BMC nephrology · 2024Article
- VEXAS Syndrome-Review.Global medical genetics · 2023Review
- VEXAS syndrome: a diagnostic puzzle.RMD open · 2023Article
- Article
- VEXAS syndrome: an adult-onset monogenic autoinflammatory disease with many unanswered questions.Reumatologia · 2023Article
- Age-related mechanisms in the context of rheumatic disease.Nature reviews. Rheumatology · 2022Review
- [VEXAS syndrome].Zeitschrift fur Rheumatologie · 2022Review
- Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.Frontiers in immunology · 2022Article
- Trisomy 8 Associated Clonal Cytopenia Featured With Acquired Auto-Inflammation and Its Response to JAK Inhibitors.Frontiers in medicine · 2022Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Discovery of the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome demonstrates that somatic mutations in haematological precursor cells can cause adult-onset, complex inflammatory disease. Unlike germline mutations, somatic mutations occur throughout the lifespan, are restricted to specific tissue types, and may play a causal role in non-heritable rheumatological diseases, especially conditions that start in later life. Improvements in sequencing technology have enabled researchers and clinicians to detect somatic mutations in various tissue types, especially blood. Understanding the relationships between cell-specific acquired mutations and inflammation is likely to yield key insights into causal factors that underlie many rheumatological diseases. The objective of this review is to detail how somatic mutations are likely to be relevant to clinicians who care for patients with rheumatological diseases, with particular focus on the pathogenetic mechanisms of the VEXAS syndrome.
Indexed as
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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.