Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront

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  CAS  PubMed  Google Scholar 

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.

Article  CAS  PubMed  PubMed Central  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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Beecher MB, Tong JY, Halliday LA, Hissaria P, Selva D. Recurrent orbital inflammation associated with VEXAS syndrome. Orbit (Amsterdam, Netherlands). 2022;43:1–4.

Google Scholar 

Bindoli S, Baggio C, Doria A, Bertoldo E, Sfriso P. JAK inhibitors for the treatment of VEXAS syndrome. Exp Biol Med. 2023;248(5):394–8. https://doi.org/10.1177/15353702231165030.

Article  CAS  Google Scholar 

Bourbon E, Heiblig M, Gerfaud Valentin M, Barba T, Durel C-A, Lega JC, et al. Therapeutic options in VEXAS syndrome: insights from a retrospective series. Blood. 2021;137(26):3682–4.

Article  CAS  PubMed  Google Scholar 

Fahmy LM, Schreidah CM, Lapolla BA, Magro CM, Geskin LJ. VEXAS syndrome presenting as refractory cutaneous Kikuchi disease-like inflammatory pattern responding to tofacitinib. JAAD Case Rep. 2023;38:136–40.

Article  PubMed  PubMed Central  Google Scholar 

Fanlo P, Román MLS, Fonollosa A, Ilarramendi J, Heras H, Grayson P. Episcleritis and periorbital edema secondary to VEXAS syndrome. Archivos De La Sociedad Espanola De Oftalmologia. 2023;98(10):607–10.

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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fukuda N, Kanai D, Hoshino K, Fukuda Y, Morita R, Ishikawa Y, et al. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report. BMC Nephrol. 2024;25(1):18.

Article  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.

Article  CAS  PubMed  Google Scholar 

Goyal A, Narayanan D, Wong W, Laga AC, Connell NT, Ritter SY, et al. Tocilizumab for treatment of cutaneous and systemic manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome without myelodysplastic syndrome. JAAD Case Rep. 2022;23:15–9.

Article  PubMed  PubMed Central  Google Scholar 

Groarke EM, Dulau-Florea AE, Kanthi Y. Thrombotic manifestations of VEXAS syndrome. Semin Hematol. 2021;58(4):230–8.

Article  PubMed  Google Scholar 

Habershon C, Budzillo M, Wong R, Tate C, Rivlin W, Droney L. 86: Vexas syndrome: a case of treatment refractory, severe autoinflammatory disease. Intern Med J. 2022;52(S5):26. https://doi.org/10.1111/imj.85_15894.

Article  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.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Islam S, Cullen T, Sumpton D, Damodaran A, Heath D, Bosco A, et al. VEXAS syndrome: lessons learnt from an early Australian case series. Intern Med J. 2022;52(4):658–62.

Article  PubMed  Google Scholar 

Johansen MM, El Fassi D, Nielsen CTH, Krintel SB, Graudal N, Hansen JW. Treatment experiences with focus on IL-6R inhibition in patients with VEXAS-syndrome and a case of remission with azacytidine treatment. Rheumatology (Oxford). 2023. https://doi.org/10.1093/rheumatology/kead697.

Article  PubMed  Google Scholar 

Kao RL, Jacobsen AA, Billington CJ Jr, Yohe SL, Beckman AK, Vercellotti GM, et al. A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis. Blood Cells Mol Dis. 2022;93: 102636.

Article  CAS  PubMed  Google Scholar 

Khitri MY, Hadjadj J, Mekinian A, Jachiet V. VEXAS syndrome: an update. Joint Bone Spine. 2024;91(4): 105700.

Article  CAS  PubMed  Google Scholar 

Koster MJ, Kourelis T, Reichard KK, Kermani TA, Beck DB, Cardona DO, et al. Clinical heterogeneity of the VEXAS syndrome. Mayo Clin Proc. 2021;96(10):2653–9.

Article  PubMed  Google Scholar 

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. Front Immunol. 2022;13: 901063. https://doi.org/10.3389/fimmu.2022./full. (in Japan).

Article  CAS  PubMed  PubMed Central  Google Scholar 

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.

Article  PubMed  Google Scholar 

Miyoshi Y, Kise T, Morita K, Okada H, Imadome KI, Tsuchida N, et al. Long-term remission of VEXAS syndrome achieved by a single course of CHOP therapy: a case report. Mod Rheumatol Case Rep. 2023;8(1):199–204.

Article  PubMed  Google Scholar 

Morris R, Kershaw NJ, Babon JJ. The molecular details of cytokine signaling via the JAK/STAT pathway. Protein Sci. 2018;27(12):1984–2009.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moura MC, Baqir M, Tandon YK, Samec MJ, Hines AS, Reichard KK, et al. Pulmonary manifestations in VEXAS syndrome. Respir Med. 2023;213: 107245.

Article  Google Scholar 

Muratore F, Marvisi C, Castrignanò P, Nicoli D, Farnetti E, Bonanno O, et al. VEXAS syndrome: a case series from a single-center cohort of italian patients with vasculitis. Arthrit Rheumatol (Hoboken, NJ). 2022;74(4):665–70.

Article  CAS  Google Scholar 

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(26):3676–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Salehi T, Callisto A, Beecher MB, Hissaria P. Tofacitinib as a biologic response modifier in VEXAS syndrome: a case series. Int J Rheum Dis. 2023;26(11):2340–3. https://doi.org/10.1111/756-185X.14785.

Article  CAS  PubMed  Google Scholar 

Scott IC, Hider SL, Scott DL. Thromboembolism with Janus Kinase (JAK) inhibitors for rheumatoid arthritis: how real is the risk? Drug Saf. 2018;41(7):645–53.

Article  CAS  PubMed  Google Scholar 

Stiburkova B, Pavelcova K, Belickova M, Magaziner SJ, Collins JC, Werner A, et al. Novel somatic UBA1 variant in a patient with VEXAS syndrome. Arthrit Rheumatol (Hoboken, NJ). 2023;75(7):1285–90.

Article  CAS  Google Scholar 

Tozaki N, Tawada C, Niwa H, Mizutani Y, Shu E, Kawase A, et al. A case of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) with decreased oxidative stress levels after oral prednisone and tocilizumab treatment. Front Med (Lausanne). 2022;9:1046820.

Article  PubMed 

留言 (0)

沒有登入
gif