ArticleBlood advances2021
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Article in Blood advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers, 6 of them syntheses that pooled it.
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Who cites it
127 citing papers in PubMed, 6 syntheses or guidelines pooled it, 226 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
- Assessing the efficacy of allogeneic hematopoietic cell transplantation in VEXAS syndrome: results of a systematic review and meta-analysis.Bone marrow transplantation · 2024Pooled 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
- Clinical management of clonal hematopoiesis.Cancer · 2026Review
- Myelodysplasia in VEXAS syndrome.Blood advances · 2026Review
- What Explains the Pattern of Fibrosis in Chronic Graft-Versus-Host Disease?Clinical transplantation · 2026Review
- VEXAS Syndrome: Clues to Avoid Vexation.Journal of cutaneous pathology · 2026Review
- An Italian cartography of VEXAS-related thrombosis.HemaSphere · 2026Article
- Atypical Presentation of VEXAS Syndrome Amid Coexisting Comorbidities: Diagnosis by High Depth Targeted Sequencing.International journal of rheumatic diseases · 2026Article
- VEXAS Mimicking Antiphospholipid Syndrome: Diagnostic Challenges of False-Positive Antiphospholipid Antibodies.International journal of molecular sciences · 2026Article
- VEXAS syndrome unmasked from relapsing polychondritis and infection mimicry: a case-based review.Rheumatology international · 2026Review
- Vexas Syndrome Without Macrocytosis: A Case Highlighting an Expanding Clinical Phenotype and Diagnostic Delay.Cureus · 2026Article
- Article
- A neurologist's guide to VEXAS syndrome: Differentiating somatic autoinflammation from autoimmune mimics.Intractable & rare diseases research · 2026Review
- VEXAS syndrome: a comprehensive clinicopathologic and genetic analysis of a predominantly Indian cohort.Journal of hematopathology · 2026Article
- VEXAS Syndrome: Clinical Features, Hematologic Involvement, and Clinical Outcomes of Current and Emerging Therapies.Hematology reports · 2026Review
67 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 4 institutions in 2 countries.
Funding
Abstract
Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Here, we report clinical hematologic manifestations and unique bone marrow (BM) features in 16 patients with VEXAS. All patients were male and had a history of severe autoinflammatory and rheumatologic manifestations and a somatic UBA1 mutation (p.Met41). Ten patients had hematologic disorders: myelodysplastic syndrome (MDS; 6 of 16), multiple myeloma (2 of 16), monoclonal gammopathy of undetermined significance (2 of 16), and monoclonal B-cell lymphocytosis (2 of 16), and a few of those patients had 2 co-existing clonal processes. Although macrocytic anemia (100%) and lymphopenia (80%) were prevalent in all patients with VEXAS, thrombocytopenia and neutropenia were more common in patients with progression to MDS. All BMs in VEXAS patients had prominent cytoplasmic vacuoles in myeloid and erythroid precursors. In addition, most BMs were hypercellular with myeloid hyperplasia, erythroid hypoplasia, and varying degrees of dysplasia. All patients diagnosed with MDS were lower risk (low blast count, very good to intermediate cytogenetics) according to standard prognostic scoring with no known progression to leukemia. In addition, 10 of 16 patients had thrombotic events, including venous thromboembolism and arterial stroke. Although VEXAS presents symptomatically as a rheumatologic disease, morbidity and mortality are associated with progression to hematologic disease. Given the increased risk of developing MDS and multiple myeloma, surveillance for disease progression is important.
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Registered trials
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