A novel variant associated with refractory lymphopenia in systemic lupus erythematosus:Dedicator of cytokinesis 2 gene c.2883

A novel variant associated with refractory lymphopenia in systemic lupus erythematosus:Dedicator of cytokinesis 2 gene c.2883_2886dup

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作者单位: Department of Respiratory Medicine，Shandong Provincial Third Hospital，Shandong University，Jinan，Shandong，China；Department of Rheumatology and Immunology，Shandong Province Hospital of Shandong First Medical University，Jinan，Shandong，China

摘要: To the Editor,Genetic and phenotypic heterogeneity present challenges for the diagnosis and personalized treatment of systemic lupus erythematosus。1 Leukopenia,a common clinical presentation of SLE,can vary in severity from mild to severe.Current thinking often attributes the pathogenesis of leukopenia to immune-mediated damage,infections,or iatrogenic factors。2 However,the gene defects associated with leukopenia have only gained limited attention.Here,we report a novel dedicator of cytokinesis ...更多; To the Editor,Genetic and phenotypic heterogeneity present challenges for the diagnosis and personalized treatment of systemic lupus erythematosus。1 Leukopenia,a common clinical presentation of SLE,can vary in severity from mild to severe.Current thinking often attributes the pathogenesis of leukopenia to immune-mediated damage,infections,or iatrogenic factors。2 However,the gene defects associated with leukopenia have only gained limited attention.Here,we report a novel dedicator of cytokinesis 2gene mutation that played a nonautoimmune pathogenic role in a woman with SLE who developed refractory lymphopenia。[第一段]收起

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