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10.1084/jem.20141759

http://scihub22266oqcxt.onion/10.1084/jem.20141759
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C4267241!4267241!25488983
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suck abstract from ncbi


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pmid25488983      J+Exp+Med 2014 ; 211 (13): 2537-47
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  • Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K #MMPMID25488983
  • 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
  • J Exp Med 2014[Dec]; 211 (13): 2537-47 PMID25488983show ga
  • Lucas et al. identify humans with a gain-of-function mutation in PIK3R1, encoding the p85? subunit of PI3K. The splice site mutation causes in-frame skipping of exon 11, resulting in altered p85? association with p110? that stabilizes the catalytic subunit but fails to properly inhibit catalytic activity. The patients have immunodeficiency and lymphoproliferation with skewing of CD8+ T cells toward terminally differentiated and senescent effector cells that have shortened telomeres.
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