Abstract
Activated phosphoinositide 3-kinase δ syndrome type 1 (APSD type 1) is caused by gain-of-function mutations in the gene encoding p110δ subunit of PI3K
Constitutive activation of the PI3K/Akt/mTOR pathway and mTOR pathway is the primary cause of abnormal lymphoproliferation in APDS
Rapamycin has been shown to improve lymphoproliferative symptoms in APDS
Leniolisib is a small molecule inhibitor of p110δ and improves lymphoproliferative symptoms and abnormal pattern of T cell population
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Sharapova, S.O. (2019). Portal Hypertension and Progressive Lymphoproliferation. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_23
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DOI: https://doi.org/10.1007/978-3-030-21262-9_23
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