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

Ankita Singh; Vibhu Joshi; Ankur Kumar Jindal; Babu Mathew; Amit Rawat

doi:10.1016/j.gendis.2019.09.015

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

Review article | 更新时间：2022-06-24

- An updated review on activated PI3 kinase delta syndrome (APDS)
- An updated review on activated PI3 kinase delta syndrome (APDS)
- Genes & Diseases 2020年7卷第1期
- 作者机构：
  
  Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research,Chandigarh,India
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.09.015
  中图分类号：
- 纸质出版日期：2020，
  
  网络出版日期：2020-3-1，
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Ankita Singh, Vibhu Joshi, Ankur Kumar Jindal, 等. An updated review on activated PI3 kinase delta syndrome (APDS)[J]. Genes & Diseases, 2020,7(1).

Ankita Singh, Vibhu Joshi, Ankur Kumar Jindal, et al. An updated review on activated PI3 kinase delta syndrome (APDS)[J]. Genes & Diseases, 2020,7(1).
Ankita Singh, Vibhu Joshi, Ankur Kumar Jindal, 等. An updated review on activated PI3 kinase delta syndrome (APDS)[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.09.015.

Ankita Singh, Vibhu Joshi, Ankur Kumar Jindal, et al. An updated review on activated PI3 kinase delta syndrome (APDS)[J]. Genes & Diseases, 2020,7(1). DOI： 10.1016/j.gendis.2019.09.015.

摘要

Abstract

ivated Phosphoinositide 3-kinase δ 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 PI3Kδ inhibitors. We provide a comprehensive review on this interesting disorder focusing light on its etiology

genetic research and emerging therapy.

关键词

Keywords

Activated phosphoinositide 3-kinase δ syndrome (APDS)Gain of functionImmunodeficiencyLymphadenopathyLymphoproliferationp110δ-activating mutation causing senescent T cells

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