Activated PI3K Delta Syndrome

Activated PI3K delta syndrome (APDS, also known as PASLI disease) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene, which encodes the p110δ catalytic subunit of PI3Kδ. APDS-2 (PASLI-R1) is caused by exon-skipping mutations in PIK3R1 which encodes for the regulatory subunit p85α. APDS and APDS-2 patients present with similar symptoms, which include increased susceptibility to airway infections, bronchiectasis and lymphoproliferation.