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A human immunodeficiency caused by mutations in the PIK3R1 gene.
Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A, Kracker S. Deau MC, et al. J Clin Invest. 2014 Sep;124(9):3923-8. doi: 10.1172/JCI75746. Epub 2014 Aug 18. J Clin Invest. 2014. PMID: 25133428 Free PMC article.
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews H, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, Rao VK, Su HC, Lenardo MJ. Lucas CL, et al. J Exp Med. 2014 Dec 15;211(13):2537-47. doi: 10.1084/jem.20141759. Epub 2014 Dec 8. J Exp Med. 2014. PMID: 25488983 Free PMC article.