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

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 activ...

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Autores principales: Estes, Jordan, Malus, Matthew, Wilson, Lorena, Grayson, Peter C, Maz, Mehrdad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10317045/
https://www.ncbi.nlm.nih.gov/pubmed/37404435
http://dx.doi.org/10.7759/cureus.39906
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author Estes, Jordan
Malus, Matthew
Wilson, Lorena
Grayson, Peter C
Maz, Mehrdad
author_facet Estes, Jordan
Malus, Matthew
Wilson, Lorena
Grayson, Peter C
Maz, Mehrdad
author_sort Estes, Jordan
collection PubMed
description 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.
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spelling pubmed-103170452023-07-04 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 Estes, Jordan Malus, Matthew Wilson, Lorena Grayson, Peter C Maz, Mehrdad Cureus Internal Medicine 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. Cureus 2023-06-03 /pmc/articles/PMC10317045/ /pubmed/37404435 http://dx.doi.org/10.7759/cureus.39906 Text en Copyright © 2023, Estes et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Estes, Jordan
Malus, Matthew
Wilson, Lorena
Grayson, Peter C
Maz, Mehrdad
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10317045/
https://www.ncbi.nlm.nih.gov/pubmed/37404435
http://dx.doi.org/10.7759/cureus.39906
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