Activated PI3-Kinase Delta Syndrome (APDS)/p110d-Activating Mutations Causing Senescent T Cells, Lymphadenopathy, and Immunodeficiency (PASLI)
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An immunodeficiency defined by PIK3CD gain-of-function mutations encoding for the p110δ catalytic subunit of the phosphatidylinositol3-kinase delta (PI3K δ) (activated PI3K delta syndrome (APDS) 1) (Angulo et al. 2013) or by autosomal dominant mutations in PIK3R1 encoding the regulatory subunit p85α (APDS2) (Deau et al. 2014).
So far (2018), over 100 patients with mutations in PIK3CD and over 50 patients with mutations in PIK3R1 have been identified (Lougaris et al. 2015; Coulter et al. 2016; Elkaim et al. 2016; Crank et al. 2014; Kracker et al. 2014; Wentink et al. 2017; Petrovski et al. 2016; Tsujita et al. 2016; Takeda et al. 2017; Dulau Florea et al. 2017; Heurtier et al. 2017).
Most APDS patients present with recurrent bacterial...