VEXAS syndrome

Beck, D. B. et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N. Engl. J. Med. 383, 2628–2638 (2020). Seminal paper describing VEXAS as a distinct clinical entity caused by UBA1 mutations.

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Ramser, J. et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am. J. Hum. Genet. 82, 188–193 (2008).

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Zhang, T. et al. Genomic and evolutionary classification of lung cancer in never smokers. Nat. Genet. 53, 1348–1359 (2021).

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Beck, D. B. et al. Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population. JAMA 329, 318–324 (2023).

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Corty, R. W. et al. VEXAS-defining UBA1 somatic variants in 245,368 diverse individuals in the NIH All Of Us cohort. Arthritis Rheumatol. 76, 942–948 (2024).

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Martinez Rodriguez, A. et al. Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: insights from patient cohorts and the general population. Br. J. Haematol. 208, 116–128 (2026).

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Sakuma, M. et al. Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations. Leukemia 39, 2872–2880 (2025). This paper compares clinical manifestations in Met41 and non-Met41 mutations in a large cohort of patients with VEXAS, with higher incidence of severe haematological manifestations in the latter.

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Maeda, A. et al. Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome. Rheumatology 63, 2056–2064 (2024).

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Barba, T. et al. VEXAS syndrome in a woman. Rheumatology 60, E402–E403 (2021).

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Echerbault, R. et al. Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports. Rheumatology 63, 2694–2700 (2024).

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Bourguiba, R. et al. Characterizing VEXAS syndrome in women: findings from an international multicenter study. J. Intern. Med. 298, 516–524 (2025).

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Anderson, M. et al. Clinical manifestations of VEXAS syndrome across a broad spectrum of UBA1 mutation burden. Arthritis Rheumatol. 78, 223–230 (2026).

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Ferrada, M. A. et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood 140, 1496–1506 (2022).

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Georgin-Lavialle, S. et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br. J. Dermatol. 186, 564–574 (2022).

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Maeda, A. et al. High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study. Mod. Rheumatol. 36, 307–312 (2025).

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Kirino, Y. et al. Low remission rates and high incidence of adverse events in a prospective VEXAS syndrome registry. Rheumatology 64, 3872–3878 (2025). Prospective registry study on clinical outcomes in a cohort of patients with VEXAS.

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Hadjadj, J. & Beck, D. VEXAS Syndrome. in GeneReviews [Internet] https://www.ncbi.nlm.nih.gov/books/NBK614471/ (2025).

Turturice, B. A. et al. Disease trajectories and glucocorticoid exposure in VEXAS syndrome treated with cytokine-directed therapies. Ann. Rheum. Dis. 85, 370–378 (2025).

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Adachi, S. et al. Targeting enhanced cell death represents a potential therapeutic strategy for VEXAS syndrome. Rheumatol. Adv. Pract. 8, rkae065 (2024).

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Mizumaki, H. et al. In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome. Nat. Commun. 16, 4690 (2025).

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Breillat, P. et al. Impaired cytotoxic function and exhausted phenotype of natural killer cells in VEXAS syndrome. Blood 146, 1950–1963 (2025).

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Kosmider, O. et al. VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation. Nat. Commun. 15, 910 (2024). This paper describes inflammasome activation and immune dysregulation as hallmarks of myeloid-driven inflammation in VEXAS.

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Rape, M. Ubiquitylation at the crossroads of development and disease. Nat. Rev. Mol. Cell Biol. 19, 59–70 (2018).

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McGrath, J. P., Jentsch, S. & Varshavsky, A. UBA1: an essential yeast gene encoding ubiquitin-activating enzyme. EMBO J. 10, 227–236 (1991).

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Ganesan S. et al. Single-cell genotype-phenotype mapping identifies therapeutic vulnerabilities in VEXAS syndrome. Preprint at bioRxiv https://doi.org/10.1101/2024.05.19.594376 (2024). This paper identifies the PERK UPR axis as functional vulnerability in UBA1-mutant cells through single-cell multi-omics profiling.

Magaziner, S. J. et al. The mechanism of cell autonomous inflammation in VEXAS syndrome Is mediated by proteotoxic stress [abstract]. Blood 144, 187 (2024).

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Collins, J. C. et al. Shared and distinct mechanisms of UBA1 inactivation across different diseases. EMBO J. 43, 1919–1946 (2024).

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Molteni, R. et al. Mechanisms of hematopoietic clonal dominance in VEXAS syndrome. Nat. Med. 31, 1911–1924 (2025). This paper describes in vitro and in vivo humanized models of VEXAS and exploits them to describe how UBA1-mutant haematopoietic clones may acquire dominance over wild-type haematopoiesis.

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Abdellatif, H. Circulating CD34+ hematopoietic stem/progenitor cells paralleled with level of viremia in patients chronically infected with hepatitis B virus. Regen. Med. Res. 6, 1 (2018).

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Gutierrez-Rodrigues, F. et al. Spectrum of clonal hematopoiesis in VEXAS syndrome. Blood J. 142, 244–259 (2023). This paper describes the heterogeneous interplay between CHIP mutations in patients with VEXAS and their correlation with clinical outcomes.

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Wu, Z. et al. Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS. Cell. Rep. Med. 4, 101160 (2023).

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Rodrigues, F. et al. VEXAS anemia is a mosaic erythroblastopenia. Blood 147, 1178–1190 (2026).

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Narendra, V. K. et al. Independent mechanisms of inflammation and myeloid bias in VEXAS syndrome. Nature 649, 1273–1281 (2026).

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Breillat, P. et al. Inflammatory cell death and monocyte dysfunction in VEXAS syndrome. Blood https://doi.org/10.1182/blood.2025031593 (2026).

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