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Abstract：
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a novel described autoinflammatory entity for which the diagnosis is defined by somatic mutations of the UBA1 X-linked gene in hematopoietic progenitor cells. The clinical manifestations are heterogeneous since they range from autoinflammatory symptoms to the presence of underlying hematologic disorders such as myelodysplastic syndromes. Response to treatment in VEXAS is very poor and to date, the therapeutic strategies adopted are only partially effective. However, recently described cohorts of subjects with VEXAS treated with Janus kinase inhibitors (JAK-I) proved that these drugs can be effective in the treatment of several manifestations related to the disease. Herein, we carried out a brief literature review that includes cohorts and single cases in which JAK-I were adopted as a promising strategy to manage VEXAS patients. Subsequently, we described our experience with JAK-I in VEXAS, illustrating the first case, to our knowledge, of a 65-year-old man who was successfully treated with the selective JAK-1 inhibitor filgotinib.
摘要：
液泡,E1酶，X-linked,自身炎症,体细胞（VEXAS）综合征是一种新型的自身炎症实体，其诊断由造血祖细胞中UBA1X连锁基因的体细胞突变定义。临床表现是异质的，因为它们的范围从自身炎症症状到潜在的血液系统疾病如骨髓增生异常综合征的存在。对VEXAS治疗的反应非常差，迄今为止，所采用的治疗策略仅部分有效.然而,最近描述的接受Janus激酶抑制剂（JAK-I）治疗的VEXAS受试者队列证明，这些药物可有效治疗与该疾病相关的几种表现。在这里，我们进行了简短的文献综述,包括采用JAK-I作为治疗VEXAS患者的有希望的策略的队列和单个病例.随后，我们在VEXAS中描述了我们使用JAK-I的经验，说明第一种情况，根据我们的知识，一名65岁的男性成功使用选择性JAK-1抑制剂filgotinib治疗。
