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Case Reports
. 2023 Jun 3;15(6):e39906.
doi: 10.7759/cureus.39906. eCollection 2023 Jun.

A Case of VEXAS: Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome With Co-existing DNA (Cytosine-5)-Methyltransferase 3A Mutation Complicated by Localized Skin Reaction to Tocilizumab and Azacitidine

Jordan Estes  1 , Matthew Malus  2 , Lorena Wilson  3 , Peter C Grayson  4 , Mehrdad Maz  2
Affiliations
Case Reports

A Case of VEXAS: Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome With Co-existing DNA (Cytosine-5)-Methyltransferase 3A Mutation Complicated by Localized Skin Reaction to Tocilizumab and Azacitidine

Jordan Estes et al. Cureus. .

Abstract

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently identified autoinflammatory condition with a correlating missense somatic mutation of the X chromosome. Here we present a unique case of a patient with VEXAS syndrome with coinciding ubiquitin-like modifier activating enzyme 1 (UBA1) and DNA (cytosine-5)-methyltransferase 3A (DNMT3A) mutations who developed cutaneous and systemic reactions to tocilizumab and azacitidine therapy, respectively.

Keywords: azacitidine; dnmt3a; myelodysplastic syndrome; tocilizumab; uba1; vexas.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Subcutaneous reaction to azacitidine injection (right anterior thigh)
Figure 2
Figure 2. Subcutaneous reaction to azacitidine injection (right lateral leg)
See this image and copyright information in PMC

References

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