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

被引：43

作者：

Singh, Ankita ^{[1
]}

Joshi, Vibhu ^{[1
]}

Jindal, Ankur Kumar ^{[1
]}

Mathew, Babu ^{[1
]}

Rawat, Amit ^{[1
]}

机构：

[1] Postgrad Inst Med Educ & Res, Dept Pediat, Allergy Immunol Unit, Adv Pediat Ctr, Chandigarh, India

来源：

GENES & DISEASES | 2020年 / 7卷 / 01期

关键词：

Activated phosphoinositide 3-kinase delta syndrome (APDS); Gain of function; Immunodeficiency; Lymphadenopathy; Lymphoproliferation; p110 delta-activating mutation causing senescent T cells; GAIN-OF-FUNCTION; HYPER IGM SYNDROME; PHOSPHOINOSITIDE; 3-KINASE; PI3K-DELTA SYNDROME; HUMAN IMMUNODEFICIENCY; B-CELLS; MUTATIONS; PIK3R1; PATIENT; MATURATION;

D O I：

10.1016/j.gendis.2019.09.015

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Activated Phosphoinositide 3-kinase delta 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 PI3K delta inhibitors. We provide a comprehensive review on this interesting disorder focusing light on its etiology, genetic research and emerging therapy. Copyright (C) 2019, Chongqing Medical University. Production and hosting by Elsevier B.V.

引用

页码：67 / 74

页数：8

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