Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628–38. https://doi.org/10.1056/NEJMoa2026834.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Molteni R, Fiumara M, Campochiaro C, Alfieri R, Pacini G, Licari E, et al. Mechanisms of hematopoietic clonal dominance in VEXAS syndrome. Nat Med. 2025. https://doi.org/10.1038/s41591-025-03623-9.

Article  PubMed  PubMed Central  Google Scholar 

Hershko A, Ciechanover A. The ubiquitin system. Annu Rev Biochem. 1998;67:425–79. https://doi.org/10.1146/annurev.biochem.67.1.425.

Article  CAS  PubMed  Google Scholar 

Pickart CM. Mechanisms underlying ubiquitination. Annu Rev Biochem. 2001;70:503–33. https://doi.org/10.1146/annurev.biochem.70.1.503.

Article  CAS  PubMed  Google Scholar 

Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022;140(13):1496–506. https://doi.org/10.1182/blood.2022016985.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wu Z, Gao S, Gao Q, Patel BA, Groarke EM, Feng X, et al. Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS. Cell Rep Med. 2023;4(8): 101160. https://doi.org/10.1016/j.xcrm.2023.101160.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Echerbault R, Bourguiba R, Georgin-Lavialle S, Lavigne C, Ravaiau C, Lacombe V. Comparing clinical features between males and females with VEXAS syndrome: data from literature analysis of patient reports. Rheumatology (Oxford). 2024;63(10):2694–700. https://doi.org/10.1093/rheumatology/keae123.

Article  CAS  PubMed  Google Scholar 

Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, et al. Spectrum of clonal hematopoiesis in VEXAS syndrome. Blood. 2023;142(3):244–59. https://doi.org/10.1182/blood.2022018774.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kunimoto H, Miura A, Maeda A, Tsuchida N, Uchiyama Y, Kunishita Y, et al. Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome. Int J Hematol. 2023;118(4):494–502. https://doi.org/10.1007/s12185-023-03598-8.

Article  CAS  PubMed  Google Scholar 

Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa JE, et al. Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes. Blood. 2024;144(11):1221–9. https://doi.org/10.1182/blood.2023023723.

Article  CAS  PubMed  Google Scholar 

Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, et al. Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population. JAMA. 2023;329(4):318–24. https://doi.org/10.1001/jama.2022.24836.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sakuma M, Blombery P, Meggendorfer M, Haferlach C, Lindauer M, Martens UM, et al. Novel causative variants of VEXAS in UBA1 detected through whole genome transcriptome sequencing in a large cohort of hematological malignancies. Leukemia. 2023;37(5):1080–91. https://doi.org/10.1038/s41375-023-01857-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bourbon E, Heiblig M, Gerfaud Valentin M, Barba T, Durel CA, Lega JC, et al. Therapeutic options in VEXAS syndrome: insights from a retrospective series. Blood. 2021;137(26):3682–4. https://doi.org/10.1182/blood.2020010177.

Article  CAS  PubMed  Google Scholar 

Heiblig M, Ferrada MA, Koster MJ, Barba T, Gerfaud-Valentin M, Mékinian A, et al. Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study. Blood. 2022;140(8):927–31. https://doi.org/10.1182/blood.2022016642.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, 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. 2022;186(3):564–74. https://doi.org/10.1111/bjd.20805.

Article  CAS  PubMed  Google Scholar 

Hadjadj J, Nguyen Y, Mouloudj D, Bourguiba R, Heiblig M, Aloui H, et al. Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX. Ann Rheum Dis. 2024;83(10):1358–67. https://doi.org/10.1136/ard-2024-225640.

Article  CAS  PubMed  Google Scholar 

Boyadzhieva Z, Ruffer N, Kötter I, Krusche M. How to treat VEXAS syndrome: a systematic review on effectiveness and safety of current treatment strategies. Rheumatology (Oxford). 2023;62(11):3518–25. https://doi.org/10.1093/rheumatology/kead240.

Article  CAS  PubMed  Google Scholar 

Al-Hakim A, Trikha R, Phyu Htut EE, Chowdhury O, MacLennan CA, Chee A, et al. Treatment outcomes in patients with VEXAS syndrome: a retrospective cohort study. Lancet Rheumatol. 2025;7(7):e472–84. https://doi.org/10.1016/S2665-9913(25)00034-7.

Article  CAS  PubMed  Google Scholar 

Turturice BA, Fike A, Patel BA, Groarke EM, Gutierrez-Rodriguez F, Stonick K, et al. Disease trajectories and glucocorticoid exposure in VEXAS syndrome treated with cytokine-directed therapies. Ann Rheum Dis. 2025. https://doi.org/10.1016/j.ard.2025.05.021.

Article  PubMed  Google Scholar 

Raaijmakers MHGP, Hermans M, Aalbers A, Rijken M, Dalm VASH, van Daele P, et al. Azacytidine treatment for VEXAS syndrome. Hemasphere. 2021;5(12): e661. https://doi.org/10.1097/HS9.0000000000000661.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mekinian A, Zhao LP, Chevret S, Desseaux K, Pascal L, Comont T, et al. A phase II prospective trial of azacitidine in steroid-dependent or refractory systemic autoimmune/inflammatory disorders and VEXAS syndrome associated with MDS and CMML. Leukemia. 2022;36(11):2739–42. https://doi.org/10.1038/s41375-022-01698-8.

Article  PubMed  Google Scholar 

Comont T, Heiblig M, Rivière E, Terriou L, Rossignol J, Bouscary D, et al. Azacitidine for patients with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry. Br J Haematol. 2022;196(4):969–74. https://doi.org/10.1111/bjh.17893.

Article  CAS  PubMed  Google Scholar 

Kataoka A, Mizumoto C, Kanda J, Iwasaki M, Sakurada M, Oka T, et al. Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome. Int J Hematol. 2023;117(6):919–24. https://doi.org/10.1007/s12185-023-03532-y.

Article  CAS  PubMed  Google Scholar 

Aalbers AM, van Daele PLA, Dalm VASH, Valk PJM, Raaijmakers MHGP. Long-term genetic and clinical remissions after cessation of azacitidine treatment in patients with VEXAS syndrome. Hemasphere. 2024;8(8): e129. https://doi.org/10.1002/hem3.129.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sockel K, Götze K, Ganster C, Bill M, Georgi JA, Balaian E, et al. VEXAS syndrome: complete molecular remission after hypomethylating therapy. Ann Hematol. 2024;103(3):993–7. https://doi.org/10.1007/s00277-023-05611-w.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Trikha R, Kong KL, Galloway J, Basu TN, Quek L, Wilson J, et al. De-escalation of corticosteroids and clonal remission in UBA1 mutation-driven VEXAS syndrome with 5-azacytidine. Haematologica. 2024;109(10):3431–4. https://doi.org/10.3324/haematol.2024.285519.

Article  CAS  PubMed