VEXAS syndrome: A 2-case series report.
Reumatol Clin (Engl Ed)
; 20(6): 341-344, 2024.
Article
en En
| MEDLINE
| ID: mdl-38918162
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enzimas Activadoras de Ubiquitina
Límite:
Humans
Idioma:
En
Revista:
Reumatol Clin (Engl Ed)
/
Reumatol. clin. (Barc., Internet, Engl. ed.)
/
Reumatologia clinica (Barcelona. Internet. English ed.)
Año:
2024
Tipo del documento:
Article