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10.1016/j.jaci.2017.01.004 http://scihub22266oqcxt.onion/10.1016/j.jaci.2017.01.004 C5369241!5369241 !28270363     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28270363 &cmd=llinks): Failed to open stream: HTTP request failed! 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Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders |pdf=|usr=}}{{28270363 }} gab.com Text Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders JO: J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=28270363 #FOAvip Primary immunodeficiency disorders (PIDs) represent a range of genetically determined diseases that typically have increased susceptibility to infections and in many cases also have evidence of immune dysregulation that often presents as autoimmunity. Most recently, the concept of gain-of-function mutations associated with PIDs has become well recognized and adds a new dimension to the understanding of this group of disorders, moving beyond the more commonly seen loss-of-function mutations. The rapidly expanding genetic defects that have been identified in patients with previously uncharacterized PIDs has opened up the potential for targeted therapy directed at the specific disease-causing abnormality. This has been driven by linking PID-specific genetic defects to the associated unique abnormalities in cellular signaling pathways amenable to directed therapies. These include agents that either block overactive or enhance underresponsive cellular pathways. Selected primary immunodeficiencies were chosen, the genetic defects of which have been recently characterized and are amenable to targeted therapy, as a reflection of the power of precision medicine. Twit Text FOAVip Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders ????J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=28270363 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28270363 #FOAvip English Wikipedia <ref>{{Cite pmid|28270363 }}</ref> Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders #MMPMID28270363 Notarangelo LD ; Fleisher TA J Allergy Clin Immunol 2017[Mar]; 139 (3 ): 715-723 PMID28270363 show ga Primary immunodeficiency disorders (PIDs) represent a range of genetically determined diseases that typically have increased susceptibility to infections and in many cases also have evidence of immune dysregulation that often presents as autoimmunity. Most recently, the concept of gain-of-function mutations associated with PIDs has become well recognized and adds a new dimension to the understanding of this group of disorders, moving beyond the more commonly seen loss-of-function mutations. The rapidly expanding genetic defects that have been identified in patients with previously uncharacterized PIDs has opened up the potential for targeted therapy directed at the specific disease-causing abnormality. This has been driven by linking PID-specific genetic defects to the associated unique abnormalities in cellular signaling pathways amenable to directed therapies. These include agents that either block overactive or enhance underresponsive cellular pathways. Selected primary immunodeficiencies were chosen, the genetic defects of which have been recently characterized and are amenable to targeted therapy, as a reflection of the power of precision medicine. |Adaptor Proteins, Signal Transducing/genetics [MESH] |Agammaglobulinemia/genetics [MESH] |Humans [MESH] |Immunologic Deficiency Syndromes/*genetics [MESH] |Infections/genetics [MESH] |Membrane Transport Proteins/genetics [MESH] |Mutation [MESH] |Phosphatidylinositol 3-Kinases/genetics [MESH] |Precision Medicine [MESH] |Primary Immunodeficiency Diseases [MESH] |STAT1 Transcription Factor/genetics [MESH] |STAT3 Transcription Factor/genetics [MESH]Targeted strategies directed at the molecular defect: Toward precision(epmc).pdf DeepDyve Pubget Overpricing