Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)
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DOI: 10.3324/haematol.2017.167601
Abstract: Class I phosphoinositide-3-kinases (PI3Ks) convert phosphoinositol-4,5-bisphosphate to phosphoinositol3,4,5-trisphosphate, a lipid second messenger produced mainly at plasma membranes where it recruits and activates pleckstrin homology domain-containing proteins, including the well known protein kinase AKT. Class IA… read more here.
Keywords: binding domain; p110; pi3k syndrome; activated pi3k ... See more keywords
The Treatment of Activated PI3Kδ Syndrome
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DOI: 10.3389/fimmu.2018.02043
Abstract: Activated phosphoinositide 3-kinase δ syndrome (APDS), also known as PASLI disease (p110d-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency) are combined immunodeficiencies resulting from gain-of-function mutations in the genes (PIK3CD and PIK3R1) encoding the… read more here.
Keywords: treatment; activated pi3k; treatment activated; pi3k syndrome ... See more keywords