Abstract:Activated phosphoinositide 3-kinase (PI3K)δ syndrome (APDS) is a heterogenous primary immunodeficiency caused by autosomal dominant mutations in PIK3CD (APDS1) or P1K3R1 (APDS2), genes that code for the catalytic p110δ and regulatory p85 subunits of PI3Kδ respectively 1,2 . Both forms of APDS result in overactivation of PI3Kδ through gain-of-function mutations in p110δ or loss-of-function mutations in p85 and present with similar immunodeficiency. Over ninety percent of APDS patients present with recurrent ear… Show more
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