Acknowledgement
This research was supported by funds from the Research of Korea Centers for Disease Control and Prevention (2020-ER6904-01) and the Seoul National University Hospital Research Fund (0320210170).
References
- 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;383:2628-38. https://doi.org/10.1056/NEJMoa2026834
- Arlet JB, Terrier B, Kosmider O. Mutant UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 2021;384:2163. https://doi.org/10.1056/NEJMc2102124
- Stubbins RJ, McGinnis E, Johal B, Chen LY, Wilson L, Cardona DO, et al. VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome). Haematologica 2022;107:1011-3. https://doi.org/10.3324/haematol.2021.280238
- 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;186:564-74. https://doi.org/10.1111/bjd.20805
- Stubbins RJ, Cherniawsky H, Chen LYC, Nevill TJ. Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. CMAJ 2022;194:E524-7. https://doi.org/10.1503/cmaj.211770
- 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;137:3682-4. https://doi.org/10.1182/blood.2020010177
- Kunishita Y, Kirino Y, Tsuchida N, Maeda A, Sato Y, Takase-Minegishi K, et al. Case report: tocilizumab treatment for VEXAS syndrome with relapsing polychondritis: a single-center, 1-year longitudinal observational study in Japan. Front Immunol 2022;13:901063. https://doi.org/10.3389/fimmu.2022.901063
- Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Ospina Cardona D, et al. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood 2021;137:3676-81. https://doi.org/10.1182/blood.2020010286
- Templé M, Duroyon E, Croizier C, Rossignol J, Huet T, Friedrich C, et al. Atypical splice-site mutations causing VEXAS syndrome. Rheumatology (Oxford) 2021;60:e435-7. https://doi.org/10.1093/rheumatology/keab524
- Lötscher F, Seitz L, Simeunovic H, Sarbu AC, Porret NA, Feldmeyer L, et al. Case report: genetic double strike: VEXAS and TET2-positive myelodysplastic syndrome in a patient with long-standing refractory autoinflammatory disease. Front Immunol 2021;12:800149. https://doi.org/10.3389/fimmu.2021.800149