Activated phosphoinositide 3‐kinase delta syndrome: Pathogenesis, clinical manifestations, and treatment
Ke Zhu,
Qifan Li,
Lingli Han
et al.
Abstract:Activated phosphoinositide 3‐kinase delta syndrome (APDS) is an autosomal dominant inborn errors of immunity resulting from gain of function mutations in the PIK3CD gene or loss of function mutations in the PIK3R1 gene. These mutations lead to hyperactivation of the phosphoinositide 3‐kinase/Akt/mammalian target of rapamycin (mTOR) signaling pathways, causing complex deficiencies in cellular and humoral immunity. APDS patients exhibit diverse clinical manifestations including recurrent respiratory infections, … Show more
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