Phosphoinositide-3-kinase δ (PI3Kδ) is found in immune cells and is part of the
PI3K/AKT/mTOR/S6K signalling pathway essential to cell survival, growth and differentiation …

Protein kinases act as a trigger for regulating a wide range of cellular processes including
development, survival, apoptosis, control of metabolism, transcription signals, and beyond …

Background Activated phosphoinositide3-kinase (PI3K) δ syndrome 1 (APDS1) is a novel
inborn errors of immunity (IEIs) caused by heterozygous gain of function mutations in PI3Kδ …

Background: The range of pulmonary complications beyond infections in pediatric
immunocompromised patients is broad but not well characterized. Our goal was to assess …

Methods A systematic review was performed according to the Preferred Reporting Items for
Systematic Reviews and Meta-Analyses approach, including all articles published in English …

Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of
immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy …

Abstract Background Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an
inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent …

Purpose Autoimmunity is a significant feature of APDS1 patients. We aimed to explore the
pathogenic immune phenotype and possible mechanisms of autoimmunity in APDS1 …

Abstract Background Phosphoinositide 3 kinases (PI3K) are lipid kinases expressed in
lymphocytes/myeloid cells. PI3K/AKT/mTOR signaling defects present with recurrent …

Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase (PIK3R1)
gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of …