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10.1038/ng.3066 http://scihub22266oqcxt.onion/10.1038/ng.3066 C4177367!4177367!25217960     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nat+Genet 2014 ; 46 (10): 1135-9 Nephropedia Template TP {{tp|p=25217960|t=2014. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation |pdf=|usr=}}{{25217960}} gab.com Text Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation JO: Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=25217960 #FOAvip Upon detection of pathogen-associated molecular patterns, innate immune receptors initiate inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs), whose stimulation recruits and proteolytically activates caspase-1 within the inflammasome, a multi-protein complex. Caspase-1 mediates the production of interleukin-1 family cytokines (IL1FCs), leading to fever, and inflammatory cell death (pyroptosis)1,2. Mutations that constitutively activate these pathways underlie several autoinflammatory diseases with diverse clinical features3. We describe a family with a previously unreported syndrome featuring neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation caused by a de novo gain-of-function mutation (p.V341A) in the HD1 domain of NLRC4 that co-segregates with disease. Mutant NLRC4 causes constitutive Interleukin-1 family cytokine production and macrophage cell death. Infected patient macrophages are polarized toward pyroptosis and exhibit abnormal staining for inflammasome components. These findings describe and reveal the cause of a life-threatening but treatable autoinflammatory disease that underscores the divergent roles of the NLRC4 inflammasome. Twit Text FOAVip Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation ????Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=25217960 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25217960 #FOAvip English Wikipedia <ref>{{Cite pmid|25217960}}</ref> Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation #MMPMID25217960 Romberg N; Al Moussawi K; Nelson-Williams C; Stiegler AL; Loring E; Choi M; Overton J; Meffre E; Khokha MK; Huttner AJ; West B; Podoltsev NA; Boggon TJ; Kazmierczak BI; Lifton RP Nat Genet 2014[Oct]; 46 (10): 1135-9 PMID25217960show ga Upon detection of pathogen-associated molecular patterns, innate immune receptors initiate inflammatory responses. These receptors include cytoplasmic NOD-like receptors (NLRs), whose stimulation recruits and proteolytically activates caspase-1 within the inflammasome, a multi-protein complex. Caspase-1 mediates the production of interleukin-1 family cytokines (IL1FCs), leading to fever, and inflammatory cell death (pyroptosis)1,2. Mutations that constitutively activate these pathways underlie several autoinflammatory diseases with diverse clinical features3. We describe a family with a previously unreported syndrome featuring neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation caused by a de novo gain-of-function mutation (p.V341A) in the HD1 domain of NLRC4 that co-segregates with disease. Mutant NLRC4 causes constitutive Interleukin-1 family cytokine production and macrophage cell death. Infected patient macrophages are polarized toward pyroptosis and exhibit abnormal staining for inflammasome components. These findings describe and reveal the cause of a life-threatening but treatable autoinflammatory disease that underscores the divergent roles of the NLRC4 inflammasome. äMutation of NLRC4 causes a syndrome of enterocolitis and autoinflammat(epmc).pdf DeepDyve Pubget Overpricing