PIK3CD基因变异致活化的PI3Kδ综合征一例临床资料及基因变异分析  

Activated PI3K Delta Syndrome Caused by PIK3CD Gene Mutation:Clinical and Genetic Variation Analyses of One Case

作　　者：何波 崔清洋[1] 逯军[1] HE Bo;CUI Qingyang;LU Jun(Central South University Xiangya School of Medicine Affiliated Haikou Hospital,Haikou 570208,China)

机构地区：[1]中南大学湘雅医学院附属海口医院,海南省海口市570208

出　　处：《中国全科医学》2020年第30期3859-3863,共5页Chinese General Practice

摘　　要：本文报道了1例PIK3CD基因变异致活化的PI3Kδ综合征患者,其主要表现为反复呼吸道感染17年余,经家系全外显子检测最终确诊本病。活化的PI3K-δ综合征是一种临床罕见的原发性联合免疫缺陷病,主要表现为反复呼吸道感染、肝脾淋巴结肿大及巨细胞病毒和/或EB病毒血症,及时进行基因检测可早期诊断。This paper reports a case of activated PI3K delta syndrome caused by PIK3CD gene mutation,who mainly presented with recurrent respiratory tract infection for more than 17 years and was diagnosed by detection of exon gene mutations in his pedigree.Activated PI3K delta syndrome is a rare primary combined immunodeficiency disease,which is characterized by recurrent respiratory tract infection,hepato-splenic lymph node enlargement,and cytomegalovirus and/or EB viremia,and timely gene detection can be used for early diagnosis.

关 键 词：活化的PI3K-δ综合征 PIK3CD 染色体结构变异 

分 类 号：R725.9[医药卫生—儿科]