Advancements in Understanding and Managing Activated PI3 Kinase Delta Syndrome: A Comprehensive Review

Abstract

Activated PI3 kinase Delta Syndrome (APDS) is defined as a primary immunodeficiency that occurs in patients with genetic mutations in the PIK3CD or PIK3R1 genes and causes dysregulation in the immune system. The current review aims to understand this condition's pathophysiology, symptoms, and diagnosis, as well as the different therapeutic strategies. Recent developments have shed new light on the essential part of PI3Kδ in immune system control, therefore paving the way for targeted treatments such as PI3Kδ inhibitors (leniolisib and duvelisib) that have proven effective in management of lymphoproliferation, autoimmunity, and repeated infections. Highlighting the importance of early diagnosis through genetic testing and personalized medicine to optimize therapy, thereby improving patient quality of life and outcomes.
Notwithstanding these developments, there will still be important steps to take concerning the long-term treatment of APDS, particularly including the safety and longevity of present therapies and examination of other genetic mutations and possible curative options such as gene editing. The management of patients with APDS requires different combined strategies, including the efforts of geneticists, immunologists, and other experts who deal with both the psychiatric and the clinical symptoms of the disorder. Research developments promise future improvements in APDS treatment and possible cures, thanks to gene editing technologies, personalized medicine, and emerging therapeutic targets.