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10.1016/j.jaci.2015.01.040 http://scihub22266oqcxt.onion/10.1016/j.jaci.2015.01.040 C4487867!4487867!25842288     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 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       J+Allergy+Clin+Immunol 2015 ; 135 (6): 1578-1588.e5 Nephropedia Template TP {{tp|p=25842288|t=2015. PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator?dependent autoimmunity |pdf=|usr=}}{{25842288}} gab.com Text PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator dependent autoimmunity JO: J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=25842288 #FOAvip Background: PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase [DNA-PK]) crucial for DNA double-strand break repair and V(D)J recombination. In mice DNA-PK also interacts with the transcription factor autoimmune regulator (AIRE) to promote central T-cell tolerance. Objective: We sought to understand the causes of an inflammatory disease with granuloma and autoimmunity associated with decreasing T- and B-cell counts over time that had been diagnosed in 2 unrelated patients. Methods: Genetic, molecular, and functional analyses were performed to characterize an inflammatory disease evocative of a combined immunodeficiency. Results: We identified PRKDC mutations in both patients. These patients exhibited a defect in DNA double-strand break repair and V(D)J recombination. Whole-blood mRNA analysis revealed a strong interferon signature. On activation, memory T cells displayed a skewed cytokine response typical of TH2 and TH1 but not TH17. Moreover, mutated DNA-PKcs did not promote AIRE-dependent transcription of peripheral tissue antigens in vitro. The latter defect correlated in vivo with production of anti?calcium-sensing receptor autoantibodies, which are typically found in AIRE-deficient patients. In addition, 9 months after bone marrow transplantation, patient 1 had Hashimoto thyroiditis, suggesting that organ-specific autoimmunity might be linked to nonhematopoietic cells, such as AIRE-expressing thymic epithelial cells. Conclusion: Deficiency of DNA-PKcs, a key AIRE partner, can present as an inflammatory disease with organ-specific autoimmunity, suggesting a role for DNA-PKcs in regulating autoimmune responses and maintaining AIRE-dependent tolerance in human subjects. Twit Text FOAVip PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator dependent autoimmunity ????J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=25842288 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25842288 #FOAvip English Wikipedia <ref>{{Cite pmid|25842288}}</ref> PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator?dependent autoimmunity #MMPMID25842288 Mathieu AL; Verronese E; Rice GI; Fouyssac F; Bertrand Y; Picard C; Chansel M; Walter JE; Notarangelo LD; Butte MJ; Nadeau KC; Csomos K; Chen DJ; Chen K; Delgado A; Rigal C; Bardin C; Schuetz C; Moshous D; Reumaux H; Plenat F; Phan A; Zabot MT; Balme B; Viel S; Bienvenu J; Cochat P; van der Burg M; Caux C; Kemp EH; Rouvet I; Malcus C; Méritet JF; Lim A; Crow YJ; Fabien N; Ménétrier-Caux C; De Villartay JP; Walzer T; Belot A J Allergy Clin Immunol 2015[Jun]; 135 (6): 1578-1588.e5 PMID25842288show ga Background: PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase [DNA-PK]) crucial for DNA double-strand break repair and V(D)J recombination. In mice DNA-PK also interacts with the transcription factor autoimmune regulator (AIRE) to promote central T-cell tolerance. Objective: We sought to understand the causes of an inflammatory disease with granuloma and autoimmunity associated with decreasing T- and B-cell counts over time that had been diagnosed in 2 unrelated patients. Methods: Genetic, molecular, and functional analyses were performed to characterize an inflammatory disease evocative of a combined immunodeficiency. Results: We identified PRKDC mutations in both patients. These patients exhibited a defect in DNA double-strand break repair and V(D)J recombination. Whole-blood mRNA analysis revealed a strong interferon signature. On activation, memory T cells displayed a skewed cytokine response typical of TH2 and TH1 but not TH17. Moreover, mutated DNA-PKcs did not promote AIRE-dependent transcription of peripheral tissue antigens in vitro. The latter defect correlated in vivo with production of anti?calcium-sensing receptor autoantibodies, which are typically found in AIRE-deficient patients. In addition, 9 months after bone marrow transplantation, patient 1 had Hashimoto thyroiditis, suggesting that organ-specific autoimmunity might be linked to nonhematopoietic cells, such as AIRE-expressing thymic epithelial cells. Conclusion: Deficiency of DNA-PKcs, a key AIRE partner, can present as an inflammatory disease with organ-specific autoimmunity, suggesting a role for DNA-PKcs in regulating autoimmune responses and maintaining AIRE-dependent tolerance in human subjects. äPRKDC mutations associated with immunodeficiency, granuloma, and autoi(epmc).pdf DeepDyve Pubget Overpricing