PDF(Pubmed)
Abstract：
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare genetic disorder originating from a somatic mutation in the hematopoietic stem cells. This syndrome was first described in 2020 and carries many clinical features that other conditions cannot explain. Widespread autoinflammation is the primary process the disease presents, with high morbidity and mortality in those who show signs of bone marrow failure. Treatment is complex, and response to current therapies is poor. Long-term prognosis carries a mortality of 50%. In addition, the advancement of new-generation messenger ribonucleic acid (mRNA) vaccines raises concerns about their safety in this population since it could trigger a vaccine-related autoimmune response. This case describes the hospital course of a male in his 50s exhibiting an unexplained cutaneous reaction to an mRNA COVID-19 vaccine. He was later diagnosed with VEXAS syndrome based on symptoms presentation and diagnostic workup.
摘要：
VEXAS（空泡，E1酶，X-linked,自身炎症,体细胞）综合征是一种罕见的遗传性疾病，起源于造血干细胞的体细胞突变。该综合征于2020年首次被描述，并具有许多其他疾病无法解释的临床特征。广泛的自身炎症是疾病呈现的主要过程，在那些有骨髓衰竭迹象的人中，发病率和死亡率很高。治疗很复杂,对当前疗法的反应很差。长期预后导致50%的死亡率。此外,新一代信使核糖核酸(mRNA)疫苗的发展引发了人们对其在该人群中的安全性的担忧,因为它可能引发疫苗相关的自身免疫反应.该病例描述了一名50多岁的男性的住院过程，表现出对mRNACOVID-19疫苗的无法解释的皮肤反应。他后来根据症状表现和诊断检查被诊断为VEXAS综合征。
