[VEXAS syndrome - a chameleon of inflammatory syndromes].

Abstract

Introduction: The VEXAS syndrome is a systemic autoinflammatory disease first described in 2020. It primarily affects older men and is caused by a somatic mutation in the UBA1 gene on the X chromosome, leading to dysfunction of the innate immune system. Symptoms include fever, weight loss, various hematological manifestations, and a broad spectrum of clinical symptoms, often including ocular manifestations. Diagnosis is based on the detection of the mutation. There is currently no standardized therapy, and mortality can be as high as 40 %.