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2023, Number 1

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Rev Hematol Mex 2023; 24 (1)

VEXAS syndrome

Simental-Legarda L, Pérez-Jacobo F

Language: English
References: 30
Page: 247-35
PDF size: 348.93 Kb.


ABSTRACT

VEXAS syndrome is a novel entity, its name is an acronym based upon key features of the syndrome: Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. It is a monogenic disease of adulthood, clinically observed as an auto-inflammatory disease with rheumatologic and hematologic manifestations. Up to 50% of patients present with an associated hematological malignancy or pre-malignant disorder. There is no standard treatment and outcomes are often fatal, with a median overall survival of 5 years.


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