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

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

Ankita Singh  1 , Vibhu Joshi  1 , Ankur Kumar Jindal  1 , Babu Mathew  1 , Amit Rawat  1
Affiliations
Review

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

Ankita Singh et al. Genes Dis. .

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.

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Figures

Figure 1
Figure 1
Phosphoinositide-3-kinase (PI3K) signaling pathway.
Figure 2
Figure 2
Domains of PIK3CD gene and previously reported pathogenic variants in its various domains.
Figure 3
Figure 3
Domains of PIK3R1 gene and previously reported pathogenic variants in its various domains.
Figure 4
Figure 4
Clinical features in patients with APDS.
Figure 5
Figure 5
CD57 profile of a patient with APDS using flow cytometry.
See this image and copyright information in PMC

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