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10.1038/ncomms14209 http://scihub22266oqcxt.onion/10.1038/ncomms14209 C5473639!5473639!28112205     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nat+Commun 2017 ; 8 (ä): ä Nephropedia Template TP {{tp|p=28112205|t=2017. A human immunodeficiency syndrome caused by mutations in CARMIL2 |pdf=|usr=}}{{28112205}} gab.com Text A human immunodeficiency syndrome caused by mutations in CARMIL2 JO: Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=28112205 #FOAvip Human T-cell function is dependent on T-cell antigen receptor (TCR) and co-signalling as evidenced by immunodeficiencies affecting TCR-dependent signalling pathways. Here, we show four human patients with EBV+ disseminated smooth muscle tumours that carry two homozygous loss-of-function mutations in the CARMIL2 (RLTPR) gene encoding the capping protein regulator and myosin 1 linker 2. These patients lack regulatory T cells without evidence of organ-specific autoimmunity, and have defective CD28 co-signalling associated with impaired T-cell activation, differentiation and function, as well as perturbed cytoskeletal organization associated with T-cell polarity and migration disorders. Human CARMIL2-deficiency is therefore an autosomal recessive primary immunodeficiency disorder associated with defective CD28-mediated TCR co-signalling and impaired cytoskeletal dynamics. Twit Text FOAVip A human immunodeficiency syndrome caused by mutations in CARMIL2 ????Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=28112205 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28112205 #FOAvip English Wikipedia <ref>{{Cite pmid|28112205}}</ref> A human immunodeficiency syndrome caused by mutations in CARMIL2 #MMPMID28112205 Schober T; Magg T; Laschinger M; Rohlfs M; Linhares ND; Puchalka J; Weisser T; Fehlner K; Mautner J; Walz C; Hussein K; Jaeger G; Kammer B; Schmid I; Bahia M; Pena SD; Behrends U; Belohradsky BH; Klein C; Hauck F Nat Commun 2017[]; 8 (ä): ä PMID28112205show ga Human T-cell function is dependent on T-cell antigen receptor (TCR) and co-signalling as evidenced by immunodeficiencies affecting TCR-dependent signalling pathways. Here, we show four human patients with EBV+ disseminated smooth muscle tumours that carry two homozygous loss-of-function mutations in the CARMIL2 (RLTPR) gene encoding the capping protein regulator and myosin 1 linker 2. These patients lack regulatory T cells without evidence of organ-specific autoimmunity, and have defective CD28 co-signalling associated with impaired T-cell activation, differentiation and function, as well as perturbed cytoskeletal organization associated with T-cell polarity and migration disorders. Human CARMIL2-deficiency is therefore an autosomal recessive primary immunodeficiency disorder associated with defective CD28-mediated TCR co-signalling and impaired cytoskeletal dynamics. äA human immunodeficiency syndrome caused by mutations in CARMIL2 (epmc).pdf DeepDyve Pubget Overpricing