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Case Reports
. 2022 Feb;57(2):315-318.
doi: 10.1038/s41409-021-01544-y. Epub 2022 Jan 9.

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

Michael Loschi  1   2 , Christian Roux  3   4 , Isabelle Sudaka  5 , Corinne Ferrero-Vacher  5 , Alice Marceau-Renaut  6 , Nicolas Duployez  6 , Thierry Passeron  7   8 , Thomas Cluzeau  9   7
Affiliations
Case Reports

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

Michael Loschi et al. Bone Marrow Transplant. 2022 Feb.

Abstract

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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References

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