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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.

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

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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.

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Correspondence to Michael Loschi.

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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). https://doi.org/10.1038/s41409-021-01544-y

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