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10.1084/jem.20161810 http://scihub22266oqcxt.onion/10.1084/jem.20161810 C5584118!5584118 !28747427     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28747427 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 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 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 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28747427 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Exp+Med 2017 ; 214 (9 ): 2547-2562 Nephropedia Template TP {{tp|p=28747427 |t=2017. A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis |pdf=|usr=}}{{28747427 }} gab.com Text A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis JO: J Exp Med http://www.kidney.de/pget.php?&tw=1&pmid=28747427 #FOAvip Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. The p.N404Y missense substitution is associated with loss of IL-6, IL-11, IL-27, and OSM signaling but a largely intact LIF response. This study identifies a novel immunodeficiency with phenotypic similarities to STAT3 hyper-IgE syndrome caused by loss of function of GP130. Twit Text FOAVip A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis ????J Exp Med http://www.kidney.de/pget.php?&tw=1&pmid=28747427 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28747427 #FOAvip English Wikipedia <ref>{{Cite pmid|28747427 }}</ref> A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis #MMPMID28747427 Schwerd T ; Twigg SRF ; Aschenbrenner D ; Manrique S ; Miller KA ; Taylor IB ; Capitani M ; McGowan SJ ; Sweeney E ; Weber A ; Chen L ; Bowness P ; Riordan A ; Cant A ; Freeman AF ; Milner JD ; Holland SM ; Frede N ; Müller M ; Schmidt-Arras D ; Grimbacher B ; Wall SA ; Jones EY ; Wilkie AOM ; Uhlig HH J Exp Med 2017[Sep]; 214 (9 ): 2547-2562 PMID28747427 show ga Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. The p.N404Y missense substitution is associated with loss of IL-6, IL-11, IL-27, and OSM signaling but a largely intact LIF response. This study identifies a novel immunodeficiency with phenotypic similarities to STAT3 hyper-IgE syndrome caused by loss of function of GP130. |Child, Preschool [MESH] |Craniosynostoses/*genetics [MESH] |Cytokine Receptor gp130/*genetics/physiology [MESH] |Exome/genetics [MESH] |Female [MESH] |Humans [MESH] |Immunologic Deficiency Syndromes/*genetics [MESH] |Interleukin-11/deficiency [MESH] |Interleukin-6/deficiency [MESH] |Interleukins/deficiency [MESH]A biallelic mutation in IL6ST encoding the GP130 co-receptor causes (epmc).pdf DeepDyve Pubget Overpricing