1.
Reumatol Clin (Engl Ed)
; 2024 Jun 24.
Article
in English
| 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.
2.
Allergol. immunopatol
; 37(3): 167-168, mayo-jun. 2009. ilus
Article
in English
| IBECS
| ID: ibc-60392
ABSTRACT
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