ePrints

The Treatment of Activated PI3Kδ Syndrome

Lookup NU author(s): Professor Andrew Cant

Downloads

• Published version [.pdf]

Licence

This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2018 Coulter and Cant. Activated phosphoinositide 3-kinase d syndrome (APDS), also known as PASLI disease (p110d-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency) are combined immunodeficiencies resulting from gain-of-function mutations in the genes (PIK3CD and PIK3R1) encoding the subunits of phosphoinositide 3-kinase d (PI3Kd) and were first described in 2013. These mutations result in the hyperactivation of the PI3K/AKT/mTOR/S6K signally pathways. In this mini-review we have detailed the current treatment options for APDS. These treatments including conventional immunodeficiency therapies such as immunoglobulin replacement, antibiotic prophylaxis, and hematopoietic stem cell transplant. We also discuss the more targeted therapies of mTOR inhibition with sirolimus and selective PI3Kd inhibitors.

Publication metadata

Author(s): Coulter TI, Cant AJ

Publication type: Note

Publication status: Published

Journal: Frontiers in Immunology

Year: 2018

Volume: 9

Online publication date: 07/09/2018

Acceptance date: 20/08/2018

ISSN (electronic): 1664-3224

Publisher: Frontiers Media S.A.

URL: https://doi.org/10.3389/fimmu.2018.02043

DOI: 10.3389/fimmu.2018.02043

Share