磷脂酰肌醇3-激酶δ过度活化综合征临床特征及诊断进展
Clinical Medicine of China(2022)
Abstract
磷脂酰肌醇3-激酶(phosphoinositide 3-kinase,PI3K)δ过度活化综合征(activated phosphoinositide 3-kinase δ syndrome,APDS)是由PIK3CD基因或PIK3R1基因突变导致PI3Kδ信号通路过度活化的常染色体显性遗传的原发性免疫缺陷病,由Angulo等学者于2013年首次报道。该病临床表现多为反复呼吸道感染、良性淋巴结增生、自身免疫病、淋巴瘤等,虽然大多数患者在儿童期发病,但也有成人发病及无症状患者的报道,加之APDS免疫表型多变,通常IgA水平降低,IgM水平可正常或升高,IgG水平多变,首诊时容易误诊,目前尚无统一诊断标准,需及时的基因检测才能确诊。
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Key words
Activated phosphoinositide 3-kinase δ syndrome,Signal pathway,Primary immunodeficiency disease,Lymphadenopathy
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