<unk>  is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene. Which encodes the p110δ catalytic subunit of<unk> δ, APDS-2 (PASLI-R1) is caused by exon-skipping mutations in PIK3R1 which encodes for the regulatory subunit p85α. APDS and APDS-2 affected individuals present with similar symptoms, which include increased susceptibility to airway infections, bronchiectasis and lymphoproliferation.
Activated PI3K delta syndrome
Flammer syndrome
STAR syndrome
HAIR-AN syndrome
PHACE syndrome
CAMFAK syndrome
TAN syndrome
Teunissen–Cremers syndrome