Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Allogeneic stem cell transplantation as a curative therapeutic approach for VEXAS syndrome: a case report

To the Editor:

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly described entity linked to somatic mutation of UBA1, encompassing inflammatory disorders and hematological malignancies. Patients experiments symptoms related to inflammatory manifestations on the skin, joints, lungs. Most patients are refractory to usual anti-inflammatory or immunosuppressive treatments. Half of them will develop hematological diseases, mostly myelodysplastic syndromes. VEXAS patients with hematological malignancies have a poor outcome and no curative option has been described so far. Because in the first reported cohort of VEXAS patients the UBA1 mutation was only found in hematopoietic stem cells but not in fibroblasts, we hypothesized that bone marrow transplantation would provide a cure for the disease. Here we report the case of a VEXAS patient who successfully received an allogeneic hematopoietic stem cell transplantation as a curative option.

This is a preview of subscription content, access via your institution

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Fig. 1: Inflammatory skin lesions.
Fig. 2: Bone marrow aspirate.


  1. 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.

    Article  CAS  Google Scholar 

  2. Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5:3203–15.

    Article  CAS  Google Scholar 

  3. Wang L, Raffoux E, Thomas X, Yakoub-Agha I, Bouhris J-H, de Botton S, et al. Immune stimulation during chemotherapy increases incidence of acute graft versus host disease in acute myeloid leukemia: a study on behalf of SFGM-TC and ALFA. Leuk Res. 2017;54:12–16.

    Article  CAS  Google Scholar 

  4. Zeiser R, von Bubnoff N, Butler J, Mohty M, Niederwieser D, Or R, et al. Ruxolitinib for Glucocorticoid-Refractory Acute Graft-versus-Host Disease. N Engl J Med. 2020;382:1800–10.

    Article  Google Scholar 

  5. Staels F, Betrains A. Woei-A-Jin FJSH, Boeckx N, Beckers M, Bervoets A et al. Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome. Front Immunol. 2021;12:678927.

    Article  CAS  Google Scholar 

  6. 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. Arthritis Rheumatol. 2021.

  7. Georgin-Lavialle S, Terrier B, Guedon A f., Heiblig M, Comont T, Lazaro E et al. Further characterization of clinical and laboratory features occurring in VEXAS syndrome in a large-scale analysis of multicenter case-series of 116 French patients. Br J Dermatol. n/a.

  8. 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;137:3682–4.

    Article  CAS  Google Scholar 

  9. Braun T, Fenaux P. Myelodysplastic Syndromes (MDS) and autoimmune disorders (AD): cause or consequence? Best Pr Res Clin Haematol. 2013;26:327–36.

    Article  CAS  Google Scholar 

  10. Fain O, Braun T, Stirnemann J, Fenaux P. [Systemic and autoimmune manifestations in myelodysplastic syndromes]. Rev Med Interne. 2011;32:552–9.

    Article  CAS  Google Scholar 

  11. Komrokji RS, Kulasekararaj A, Al Ali NH, Kordasti S, Bart-Smith E, Craig BM, et al. Autoimmune diseases and myelodysplastic syndromes. Am J Hematol. 2016;91:E280–283.

    Article  Google Scholar 

  12. Fraison J-B, Mekinian A, Grignano E, Kahn J-E, Arlet J-B, Decaux O, et al. Efficacy of Azacitidine in autoimmune and inflammatory disorders associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Leuk Res. 2016;43:13–17.

    Article  CAS  Google Scholar 

  13. 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. 2021.

  14. Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2021.

  15. Diarra A, Duployez N, Fournier E, Preudhomme C, Coiteux V, Magro L et al. Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a two center experience. Blood Adv. 2021.

Download references

Author information

Authors and Affiliations



ML: offered and performed the hematopoietic stem cell transplantation and patient follow up, wrote the paper. CR: performed rheumatologic checkup and follow up, ordered immunological tests and treated the arthritis, reviewed the paper. IS and CF-V performed bone marrow analysis and reviewed the paper. AM and ND performed molecular analysis and reviewed the paper. TP: performed dermatologic checkup and follow up and treated the skin lesions, reviewed the paper. TC: performed patient hematological follow up and reviewed the paper.

Corresponding author

Correspondence to Michael Loschi.

Ethics declarations

Competing interests

The authors declare no competing interests.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Loschi, M., Roux, C., Sudaka, I. et al. Allogeneic stem cell transplantation as a curative therapeutic approach for VEXAS syndrome: a case report. Bone Marrow Transplant 57, 315–318 (2022).

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


Quick links