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

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

Genes Dis. 2019 Oct 14;7(1):67-74. doi: 10.1016/j.gendis.2019.09.015. eCollection 2020 Mar.

Authors

Ankita Singh¹, Vibhu Joshi¹, Ankur Kumar Jindal¹, Babu Mathew¹, Amit Rawat¹

Affiliation

¹ Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Abstract

Activated 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.

Keywords: Activated phosphoinositide 3-kinase δ syndrome (APDS); Gain of function; Immunodeficiency; Lymphadenopathy; Lymphoproliferation; p110δ-activating mutation causing senescent T cells.

Publication types

Review