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10.1084/jem.20141759 http://scihub22266oqcxt.onion/10.1084/jem.20141759 C4267241!4267241 !25488983     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25488983 &cmd=llinks): Failed to open stream: HTTP request failed! 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Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K |pdf=|usr=}}{{25488983 }} gab.com Text Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K JO: J Exp Med http://www.kidney.de/pget.php?&tw=1&pmid=25488983 #FOAvip 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? catalytic PI3K subunit cause a unique disorder termed p110?-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI) disease. We report four patients from three families with a similar disease who harbor a recently reported heterozygous splice site mutation in PIK3R1, which encodes the p85?, p55?, and p50? regulatory PI3K subunits. These patients suffer from recurrent sinopulmonary infections and lymphoproliferation, exhibit hyperactive PI3K signaling, and have prominent expansion and skewing of peripheral blood CD8(+) T cells toward terminally differentiated senescent effector cells with short telomeres. The PIK3R1 splice site mutation causes skipping of an exon, corresponding to loss of amino acid residues 434-475 in the inter-SH2 domain. The mutant p85? protein is expressed at low levels in patient cells and activates PI3K signaling when overexpressed in T cells from healthy subjects due to qualitative and quantitative binding changes in the p85?-p110? complex and failure of the C-terminal region to properly inhibit p110? catalytic activity. Twit Text FOAVip Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K ????J Exp Med http://www.kidney.de/pget.php?&tw=1&pmid=25488983 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25488983 #FOAvip English Wikipedia <ref>{{Cite pmid|25488983 }}</ref> 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 PMID25488983 show ga 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? catalytic PI3K subunit cause a unique disorder termed p110?-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI) disease. We report four patients from three families with a similar disease who harbor a recently reported heterozygous splice site mutation in PIK3R1, which encodes the p85?, p55?, and p50? regulatory PI3K subunits. These patients suffer from recurrent sinopulmonary infections and lymphoproliferation, exhibit hyperactive PI3K signaling, and have prominent expansion and skewing of peripheral blood CD8(+) T cells toward terminally differentiated senescent effector cells with short telomeres. The PIK3R1 splice site mutation causes skipping of an exon, corresponding to loss of amino acid residues 434-475 in the inter-SH2 domain. The mutant p85? protein is expressed at low levels in patient cells and activates PI3K signaling when overexpressed in T cells from healthy subjects due to qualitative and quantitative binding changes in the p85?-p110? complex and failure of the C-terminal region to properly inhibit p110? catalytic activity. |*Genes, Dominant [MESH] |Adolescent [MESH] |Adult [MESH] |Alternative Splicing/*genetics [MESH] |Antibody Formation [MESH] |Base Sequence [MESH] |CD8-Positive T-Lymphocytes/immunology [MESH] |Catalytic Domain [MESH] |Cell Differentiation [MESH] |Child, Preschool [MESH] |Class Ia Phosphatidylinositol 3-Kinase [MESH] |Enzyme Activation [MESH] |Exons/genetics [MESH] |Female [MESH] |Heterozygote [MESH] |Humans [MESH] |Immunologic Deficiency Syndromes/*enzymology/*genetics/immunology [MESH] |Lymphoproliferative Disorders/enzymology/*genetics/immunology [MESH] |Male [MESH] |Molecular Sequence Data [MESH] |Mutation/*genetics [MESH] |Pedigree [MESH] |Phosphatidylinositol 3-Kinases/chemistry/*genetics [MESH] |Protein Structure, Tertiary [MESH] |Sequence Deletion [MESH] |Signal Transduction [MESH] |TOR Serine-Threonine Kinases/antagonists & inhibitors/metabolism [MESH]Heterozygous splice mutation in PIK3R1 causes human immunodeficiency w(epmc).pdf DeepDyve Pubget Overpricing