Article
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
The Journal of experimental medicine - 15 Dec 2014
Lucas Carrie L, Zhang Yu, Venida Anthony, Wang Ying, Hughes Jason, McElwee Joshua, Butrick Morgan, Matthews Helen, Price Susan, Biancalana Matthew, Wang Xiaochuan, Richards Michael, Pozos Tamara, Barlan Isil, Ozen Ahmet, Rao V Koneti, Su Helen C, Lenardo Michael J
Abstract excerpt
Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a regulatory subunit. We and others have previously reported that heterozygous mutations in PIK3CD encoding the p110...
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