Contrary to the common trend in the world of medicine, where specializations are narrowing down not only to particular systems or organs, but even to specific diseases, internal …
Dear Editor, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described disease caused by somatic myeloid mutations in UBA1, 1 a gene …
L Simental-Legarda, F Pérez-Jacobo - Revista de Hematología, 2023 - medigraphic.com
El síndrome VEXAS es una afección novedosa, su nombre es un acrónimo basado en las características clave del síndrome: vacuolas, enzima E1, ligado al cromosoma X …
Importance VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a disease with rheumatologic and hematologic features caused by …
A Vitale, V Caggiano, A Bimonte, F Caroni… - Internal and Emergency …, 2023 - Springer
Abstract VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It is an acquired monogenic autoinflammatory …
AS Lima, A Luz, AM Carvalho, MM Mourani… - … , Transfusion and Cell …, 2022 - Elsevier
Objetivos Utilizando abordagem diagnóstica baseada no genótipo, em 2020, Beck et al. descreveu pela primeira vez a síndrome VEXAS (vacuoles, E1 enzyme, X-linked …
A study analyzing the genetic mutations of blood cells in VEXAS syndrome shows how distinctly different VEXAS-associated myelodysplastic syndromes (MDS) is from classical …
M Heiblig, B Patel, Y Jamilloux - Best Practice & Research Clinical …, 2023 - Elsevier
The recently discovered VEXAS syndrome is caused by the clonal expansion of hematopoietic stem or progenitor cells with acquired mutations in UBA1 gene, which …