Abstract

Phosphoinositide 3-kinase (PI3K) disease is a rare disorder that causes severe impairment of the immune system and the ability to fight both bacterial and viral infections.1 PI3K disease can be caused by a mutation in the PIK3R1 gene. The PIK3R1 gene encodes the regulatory subunit of PI3K holoenzyme, activating the pathway involved in modulation of cell proliferation and growth.2 The PI3K disease is characterized by recurrent ear, nose, throat, and respiratory tract infections that can lead to progressive airway damage.

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