伴有镁缺陷的X连锁免疫缺陷病(X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia,XMEN)是一种由镁转运蛋白1(MAGT1)致病性功能缺失突变引起的罕见原发性免疫缺陷病(primary immunodefi...伴有镁缺陷的X连锁免疫缺陷病(X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia,XMEN)是一种由镁转运蛋白1(MAGT1)致病性功能缺失突变引起的罕见原发性免疫缺陷病(primary immunodeficiency disease,PID) [1] 。XMEN临床表现多变且多依赖于病例报告,典型特征为对EB病毒(EBV)易感性增加、病毒载量高及继发EBV相关淋巴瘤。北京清河医院收治1例XMEN综合征合并中性粒细胞减少病例,现报告如下。展开更多
文摘伴有镁缺陷的X连锁免疫缺陷病(X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia,XMEN)是一种由镁转运蛋白1(MAGT1)致病性功能缺失突变引起的罕见原发性免疫缺陷病(primary immunodeficiency disease,PID) [1] 。XMEN临床表现多变且多依赖于病例报告,典型特征为对EB病毒(EBV)易感性增加、病毒载量高及继发EBV相关淋巴瘤。北京清河医院收治1例XMEN综合征合并中性粒细胞减少病例,现报告如下。
