Beck DB, Ferrada MA, Sikora KA, 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  PubMed  PubMed Central  CAS  Google Scholar 

Al-Hakim A, Savic S. An update on VEXAS syndrome. Expert Rev Clin Immunol. 2023;19(2):203–15. https://doi.org/10.1080/1744666X.2023.2157262.

Article  PubMed  CAS  Google Scholar 

Kosmider O, Possémé C, Templé M, et al. VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation. Nat Commun. 2024;15:910. https://doi.org/10.1038/s41467-024-44811-4.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Sterling D, Duncan ME, Philippidou M, Salisbury JR, Kulasekararaj AG, Basu TN. VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) for the dermatologist. J Am Acad Dermatol. 2023;89(6):1209–14. https://doi.org/10.1016/j.jaad.2022.01.042.

Article  PubMed  CAS  Google Scholar 

van der Made CI, Potjewijd J, Hoogstins A, et al. Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS. J Allergy Clin Immunol. 2022;149(1):432-439.e4. https://doi.org/10.1016/j.jaci.2021.05.014.

Article  PubMed  CAS  Google Scholar 

Bourbon E, Heiblig M, Gerfaud Valentin M, 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  PubMed  CAS  Google Scholar 

Belicard F, Belhomme N, Bouzy S, et al. Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome in the intensive care unit: a case report. J Med Case Reports. 2023;17:314. https://doi.org/10.1186/s13256-023-04034-5.

Article  Google Scholar 

Ferrada MA, Sikora KA, Luo Y, et al. Somatic mutations in UBA1 define a distinct subset of relapsing polychondritis patients with VEXAS. Arthritis Rheumatol. 2021;73(10):1886–95. https://doi.org/10.1002/art.41743.

Article  PubMed  CAS  Google Scholar 

Yılmaz U, Güner S, Eşkazan T, et al. Kikuchi Fujimoto disease as the presenting component of VEXAS syndrome: A case report of a probable association. Clin Rheumatol. 2022;41(11):3589–92. https://doi.org/10.1007/s10067-022-06331-8.

Article  PubMed  Google Scholar 

Georgin-Lavialle S, Terrier B, Guedon AF, 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  PubMed  CAS  Google Scholar 

Zakine E, Schell B, Battistella M, et al. UBA1 variations in neutrophilic dermatosis skin lesions of patients with VEXAS syndrome. JAMA Dermatol. 2021;157(11):1349–54. https://doi.org/10.1001/jamadermatol.2021.3344.

Article  PubMed  Google Scholar 

Alhomida F, Beck DB, George TI, et al. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome-clinical presentation of a newly described somatic, autoinflammatory syndrome. JAAD Case Rep. 2021;14:111–3. https://doi.org/10.1016/j.jdcr.2021.06.010.

Article  PubMed  PubMed Central  Google Scholar 

Ferrada MA, Savic S, Cardona DO, 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  PubMed  PubMed Central  CAS  Google Scholar 

Matsumoto H, Asano T, Tsuchida N, et al. Behçet’s disease with a somatic UBA1 variant: Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. Clin Immunol. 2022;238:108996. https://doi.org/10.1016/j.clim.2022.108996.

Article  PubMed  CAS  Google Scholar 

Diarra A, Duployez N, Fournier E, et al. Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: A 2-center experience. Blood Adv. 2022;6(3):998–1003. https://doi.org/10.1182/bloodadvances.2021004749.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Koster MJ, Kourelis T, Reichard KK, et al. Clinical heterogeneity of the VEXAS syndrome: A case series. Mayo Clin Proc. 2021;96(10):2653–9. https://doi.org/10.1016/j.mayocp.2021.06.006.

Article  PubMed  Google Scholar 

Muratore F, Marvisi C, Castrignanò P, et al. VEXAS syndrome: A case series from a single-center cohort of italian patients with vasculitis. Arthritis Rheumatol. 2022;74(4):665–70. https://doi.org/10.1002/art.41992.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Nicholson LT, Cowen EW, Beck D, Ferrada M, Madigan LM. VEXAS syndrome-diagnostic clues for the dermatologist and gaps in our current understanding: A narrative review. JID Innov. 2023;4(1):100242. https://doi.org/10.1016/j.xjidi.2023.100242.

Article  PubMed  PubMed Central  Google Scholar 

Pàmies A, Ferràs P, Bellaubí-Pallarés N, Giménez T, Raventós A, Colobran R. VEXAS syndrome: Relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis. Rheumatology (Oxford). 2022;61(3):e69–71. https://doi.org/10.1093/rheumatology/keab782.

Article  PubMed  Google Scholar 

de Valence B, Delaune M, Nguyen Y, et al. Serious infections in patients with VEXAS syndrome: Data from the French VEXAS registry. Ann Rheum Dis. 2024;83(3):372–81. https://doi.org/10.1136/ard-2023-224819.

Article  PubMed  Google Scholar 

Beck DB, Bodian DL, Shah V, 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  PubMed  PubMed Central  CAS  Google Scholar 

Obiorah IE, Patel BA, Groarke EM, et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5(16):3203–15. https://doi.org/10.1182/bloodadvances.2021004976.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Lacombe V, Prevost M, Bouvier A, et al. Vacuoles in neutrophil precursors in VEXAS syndrome: Diagnostic performances and threshold. Br J Haematol. 2021;195(2):286–9. https://doi.org/10.1111/bjh.17679.

Article  PubMed  CAS  Google Scholar 

Lacombe V, Genevieve F, Chabrun F. Vacuoles in circulating immature myeloid cells in VEXAS syndrome and comparison with UBA1-wild type patients. Am J Hematol. 2024;99(2):E60–2. https://doi.org/10.1002/ajh.27192.

Article  PubMed  CAS  Google Scholar 

Koster MJ, Lasho TL, Olteanu H, et al. VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management. Am J Hematol. 2024;99(2):284–99. https://doi.org/10.1002/ajh.27156.

Article  PubMed  CAS  Google Scholar 

Poulter JA, Collins JC, Cargo C, et al. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. 2021;137(26):3676–81. https://doi.org/10.1182/blood.2020010286.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Lacombe V, Beucher A, Urbanski G, et al. Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome. Exp Hematol Oncol. 2022;11(1):6. https://doi.org/10.1186/s40164-022-00262-5.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Joshi TP, Friske SK, Hsiou DA, Duvic M. New practical aspects of sweet syndrome. Am J Clin Dermatol. 2022;23(3):301–18. https://doi.org/10.1007/s40257-022-00673-4.