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Síndrome de VEXAS: a propósito de una serie de 2 casos.
- Source :
-
Reumatología Clínica . Jun2024, Vol. 20 Issue 6, p341-344. 4p. - Publication Year :
- 2024
-
Abstract
- VEXAS syndrome is a rare entity secondary to UBA1 gene mutations, located on the X chromosome. This mutation generates, as a consequence, a characteristic vacuolation on haematopoietic stem-cells. It is characterized by multiple autoinflammatory and haematologic manifestations, which respond and end up being dependent on corticosteroid treatment. In this publication we present a 2-case series diagnosed at our hospital and make a brief literature review of the published evidence so far. [ABSTRACT FROM AUTHOR]
- Subjects :
- *X chromosome
*GENETIC mutation
*CORTICOSTEROIDS
*HOSPITALS
Subjects
Details
- Language :
- Spanish
- ISSN :
- 1699258X
- Volume :
- 20
- Issue :
- 6
- Database :
- Academic Search Index
- Journal :
- Reumatología Clínica
- Publication Type :
- Academic Journal
- Accession number :
- 177965134
- Full Text :
- https://doi.org/10.1016/j.reuma.2024.05.003