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10.1182/blood-2014-04-570879 http://scihub22266oqcxt.onion/10.1182/blood-2014-04-570879 C4168344!4168344 !25122610     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 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 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 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 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\25122610 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Blood 2014 ; 124 (12 ): 1894-904 Nephropedia Template TP {{tp|p=25122610 |t=2014. Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation |pdf=|usr=}}{{25122610 }} gab.com Text Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation JO: Blood http://www.kidney.de/pget.php?&tw=1&pmid=25122610 #FOAvip We have previously reported on a unique patient in whom homozygosity for a mutation at IRF8 (IRF8(K108E)) causes a severe immunodeficiency. Laboratory evaluation revealed a highly unusual myeloid compartment, remarkable for the complete absence of CD141 and CD161 monocytes, absence of CD11c1 conventional dendritic cells (DCs) and CD11c1/CD1231 plasmacytoid DCs, and striking granulocytic hyperplasia. The patient initially presented with severe disseminated mycobacterial and mucocutaneous fungal infections and was ultimately cured by cord blood transplant. Sequencing RNA from the IRF8(K108E) patient's primary blood cells prior to transplant shows not only depletion of IRF8-bound and IRF8-regulated transcriptional targets, in keeping with the distorted composition of the myeloid compartment, but also a paucity of transcripts associated with activated CD41 and CD81 T lymphocytes. This suggests that T cells reared in the absence of a functional antigen-presenting compartment in IRF8(K108E) are anergic. Biochemical characterization of the IRF8(K108E) mutant in vitro shows that loss of the positively charged side chain at K108 causes loss of nuclear localization and loss of transcriptional activity, which is concomitant with decreased protein stability, increased ubiquitination, increased small ubiquitin-like modification, and enhanced proteasomal degradation. These findings provide functional insight into the molecular basis of immunodeficiency associated with loss of IRF8. Twit Text FOAVip Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation ????Blood http://www.kidney.de/pget.php?&tw=1&pmid=25122610 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25122610 #FOAvip English Wikipedia <ref>{{Cite pmid|25122610 }}</ref> Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation #MMPMID25122610 Salem S ; Langlais D ; Lefebvre F ; Bourque G ; Bigley V ; Haniffa M ; Casanova JL ; Burk D ; Berghuis A ; Butler KM ; Leahy TR ; Hambleton S ; Gros P Blood 2014[Sep]; 124 (12 ): 1894-904 PMID25122610 show ga We have previously reported on a unique patient in whom homozygosity for a mutation at IRF8 (IRF8(K108E)) causes a severe immunodeficiency. Laboratory evaluation revealed a highly unusual myeloid compartment, remarkable for the complete absence of CD141 and CD161 monocytes, absence of CD11c1 conventional dendritic cells (DCs) and CD11c1/CD1231 plasmacytoid DCs, and striking granulocytic hyperplasia. The patient initially presented with severe disseminated mycobacterial and mucocutaneous fungal infections and was ultimately cured by cord blood transplant. Sequencing RNA from the IRF8(K108E) patient's primary blood cells prior to transplant shows not only depletion of IRF8-bound and IRF8-regulated transcriptional targets, in keeping with the distorted composition of the myeloid compartment, but also a paucity of transcripts associated with activated CD41 and CD81 T lymphocytes. This suggests that T cells reared in the absence of a functional antigen-presenting compartment in IRF8(K108E) are anergic. Biochemical characterization of the IRF8(K108E) mutant in vitro shows that loss of the positively charged side chain at K108 causes loss of nuclear localization and loss of transcriptional activity, which is concomitant with decreased protein stability, increased ubiquitination, increased small ubiquitin-like modification, and enhanced proteasomal degradation. These findings provide functional insight into the molecular basis of immunodeficiency associated with loss of IRF8. |*Mutation, Missense [MESH] |Amino Acid Substitution [MESH] |Antigen Presentation/genetics/immunology [MESH] |Clonal Anergy/genetics/immunology [MESH] |Cord Blood Stem Cell Transplantation [MESH] |Dendritic Cells/*immunology [MESH] |Female [MESH] |HEK293 Cells [MESH] |Homozygote [MESH] |Humans [MESH] |Immunologic Deficiency Syndromes/*genetics/*immunology/therapy [MESH] |Infant [MESH] |Interferon Regulatory Factors/*deficiency/*genetics/metabolism [MESH] |Lymphohistiocytosis, Hemophagocytic/genetics/immunology/therapy [MESH] |Mutant Proteins/genetics/immunology/metabolism [MESH] |Protein Processing, Post-Translational [MESH] |Protein Stability [MESH] |RNA/genetics [MESH]Functional characterization of the human dendritic cell immunodeficien(epmc).pdf DeepDyve Pubget Overpricing