Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP(3) 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 p110δ...

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Publicado no:J Exp Med
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4267241/
https://ncbi.nlm.nih.gov/pubmed/25488983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20141759
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