An updated review on activated PI3 kinase delta syndrome(APDS)  

作　　者：Ankita Singh Vibhu Joshi Ankur Kumar Jindal Babu Mathew Amit Rawat 

机构地区：[1]Allergy Immunology Unit,Department of Pediatrics,Advanced Pediatrics Centre,Postgraduate Institute of Medical Education and Research,Chandigarh,India

出　　处：《Genes & Diseases》2020年第1期67-74,共8页基因与疾病（英文）

摘　　要：Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency disease.It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,clinical manifestations and treatment.Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation.It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted therapy like mTOR inhibitors such as Rapamycin and selective PI3Kd inhibitors.We provide a comprehensive review on this interesting disorder focusing light on its etiology,genetic research and emerging therapy.

关 键 词：Activated phosphoinositide 3-kinase d syndrome(APDS) Gain of function Immunodeficiency LYMPHADENOPATHY LYMPHOPROLIFERATION p110d-activating mutation causing senescent T cells 

分 类 号：R392[医药卫生—免疫学]