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Article

Activated phosphoinositide 3‐kinase delta syndrome: Pathogenesis, clinical manifestations, and treatment

23 Aug 2024

Abstract excerpt

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, nonneoplastic lymphoproliferation, an increasing risk of malignancy, and autoimmune diseases. Neurodevelopmental...

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PMID: 40625457
DOI: 10.1002/pdi3.2504

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