Shaukat Farah, Hart Melissa, Burns Timothy, Bansal Pankaj
Department of Oncology, Johns Hopkins Hospital, Baltimore, MD, USA.
Department of Pathology, Mayo Clinic Health System, Eau Claire, WI, USA.
Mod Rheumatol Case Rep. 2022 Jan 7;6(1):134-139. doi: 10.1093/mrcr/rxab021.
Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene. It often coexists with myelodysplastic syndrome, which can occur due to DNA (cytosine-5)-methyltransferase 3A (DNMT3A) mutation. These patients, predominantly males, present after the fifth decade of life with unique systemic inflammatory clinical features and have haematological abnormalities and vacuolated precursor cells on bone marrow pathology. Here we describe a unique case of VEXAS syndrome in a patient harbouring DNMT3A gene mutation with coexisting UBA1 mutation with a review of literature.
空泡、E1酶、X连锁、自身炎症性、体细胞（VEXAS）综合征是一种最近描述的X连锁自身炎症性疾病，与泛素样修饰激活酶1（UBA1）基因的体细胞突变有关。它常与骨髓增生异常综合征共存，后者可能由DNA（胞嘧啶-5）-甲基转移酶3A（DNMT3A）突变引起。这些患者以男性为主，在50岁以后出现，具有独特的全身性炎症临床特征，骨髓病理学检查有血液学异常和空泡化前体细胞。在此，我们报告一例携带DNMT3A基因突变并伴有UBA1突变的VEXAS综合征患者的独特病例，并对文献进行综述。
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