磷脂酰肌醇3激酶δ过度活化综合征治疗进展
收稿日期: 2023-06-20
网络出版日期: 2024-07-08
基金资助
甘肃省科技计划项目(21JR7RA015);甘肃省科技计划项目(22YF7FA106)
Progress in treatment of activated phosphoinositide 3-kinase δ syndrome
Received date: 2023-06-20
Online published: 2024-07-08
磷脂酰肌醇3激酶δ（phosphoinositide 3-kinase δ，PI3Kδ）过度活化综合征（activated phosphoinositide 3-kinase δ syndrome，APDS）于2013年首次报道。APDS是一种PIK3CD基因或PIK3R1基因突变导致的常染色体显性遗传的原发性免疫缺陷病（primary immunodeficiency disease，PID），临床表现为反复呼吸道感染、非肿瘤性淋巴组织增生、自身免疫性疾病及淋巴瘤等。本文详细介绍了APDS治疗方案，除常规针对免疫缺陷治疗外，如抗菌药物预防、免疫球蛋白替代治疗及造血干细胞移植等，还讨论了针对性更强的哺乳动物雷帕霉素靶蛋白（mammalian target of rapamycin，mTOR）抑制剂和PI3Kδ抑制剂。
关键词： PI3Kδ过度活化综合征; 造血干细胞移植; mTOR抑制剂; PI3Kδ抑制剂
吴涛, 刘文慧 . 磷脂酰肌醇3激酶δ过度活化综合征治疗进展[J]. 内科理论与实践, 2024 , 19(02) : 140 -143 . DOI: 10.16138/j.1673-6087.2024.02.10
Phosphoinositide 3-kinase δ (PI3Kδ) activated phosphoinositide 3-kinase δ syndrome (APDS) was first reported in 2013. APDS is an autosomal dominant primary immunodeficiency disease (PID) caused by mutations in the PIK3CD gene or PIK3R1 gene. The clinical manifestations of APDS are recurrent respiratory tract infection, non-neoplastic lymphoid hyperplasia, autoimmune diseases and lymphoma. In this paper, the treatment of APDS is introduced in detail. In addition to conventional treatment for immunodeficiency, treatment such as antimicrobial prophylaxis, immunoglobulin replacement therapy and hematopoietic stem cell transplantation were reviewed, and more specific mammalian target of rapamycin (mTOR) inhibitors and PI3Kδ inhibitors were also discussed.
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