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Huijun Huang, Wenjun Zhang, Wenyu Cai, Jinqin Liu, Huijun Wang, Tiejun Qin, Zefeng Xu, Bing Li, Shiqiang Qu, Lijuan Pan, Gang Huang, Robert Peter Gale, Zhijian Xiao
VEXAS syndrome is characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting the UBA1 gene. The document presents findings from a study where a patient with MDS and autoimmune disorder was identified with a UBA1 mutation, emphasizing the poor response to immunosuppressive treatments. The authors recommend screening for UBA1 mutations in similar patients to identify those likely to have VEXAS syndrome and to consider alternative therapies.
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