E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1
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DOI: 10.1007/s10875-020-00749-y
Abstract: Activated PI3Kδ syndrome 1 is a primary immunodeficiency disease, usually caused by heterozygous mutations in PIK3CD. We aimed to identify the cause of homozygous mutation at c.G3061A (p.E1021K) in a patient and the effect of… read more here.
Keywords: mutation pik3cd; homozygous mutation; activated pi3k; e1021k homozygous ... See more keywords
Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency.
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DOI: 10.1016/j.aller.2019.12.006
Abstract: BACKGROUND Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) can underlie primary immune deficiency. The prevalence and phenotypic characterization of these patients are not well described in Egypt. OBJECTIVES To describe patients with APDS in… read more here.
Keywords: delta syndrome; cohort; primary immune; immune deficiency ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Immunology"
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