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10.1016/j.jaci.2021.06.024 http://scihub22266oqcxt.onion/10.1016/j.jaci.2021.06.024 34224783!8252701!34224783     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 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Allergy+Clin+Immunol 2021 ; 148 (3): 732-738.e1 Nephropedia Template TP {{tp|p=34224783|t=2021. Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C) |pdf=|usr=}}{{34224783}} gab.com Text Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C) JO: J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=34224783 #FOAvip BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C) is a pediatric complication of severe acute respiratory syndrome coronavirus 2 infection that is characterized by multiorgan inflammation and frequently by cardiovascular dysfunction. It occurs predominantly in otherwise healthy children. We previously reported haploinsufficiency of suppressor of cytokine signaling 1 (SOCS1), a negative regulator of type I and II interferons, as a genetic risk factor for MIS-C. OBJECTIVES: We aimed to identify additional genetic mechanisms underlying susceptibility to severe acute respiratory syndrome coronavirus 2-associated MIS-C. METHODS: In a single-center, prospective cohort study, whole exome sequencing was performed on patients with MIS-C. The impact of candidate variants was tested by using patients' PBMCs obtained at least 7 months after recovery. RESULTS: We enrolled 18 patients with MIS-C (median age = 8 years; interquartile range = 5-12.25 years), of whom 89% had no conditions other than obesity. In 2 boys with no significant infection history, we identified and validated hemizygous deleterious defects in XIAP, encoding X-linked inhibitor of apoptosis, and CYBB, encoding cytochrome b-245, beta subunit. Including the previously reported SOCS1 haploinsufficiency, a genetic diagnosis was identified in 3 of 18 patients (17%). In contrast to patients with mild COVID-19, patients with defects in SOCS1, XIAP, or CYBB exhibit an inflammatory immune cell transcriptome with enrichment of differentially expressed genes in pathways downstream of IL-18, oncostatin M, and nuclear factor kappaB, even after recovery. CONCLUSIONS: Although inflammatory disorders are rare in the general population, our cohort of patients with MIS-C was enriched for monogenic susceptibility to inflammation. Our results support the use of next-generation sequencing in previously healthy children who develop MIS-C. Twit Text FOAVip Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C) ????J Allergy Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=34224783 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=34224783 #FOAvip English Wikipedia <ref>{{Cite pmid|34224783}}</ref> Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C) #MMPMID34224783 Chou J; Platt CD; Habiballah S; Nguyen AA; Elkins M; Weeks S; Peters Z; Day-Lewis M; Novak T; Armant M; Williams L; Rockowitz S; Sliz P; Williams DA; Randolph AG; Geha RS J Allergy Clin Immunol 2021[Sep]; 148 (3): 732-738.e1 PMID34224783show ga BACKGROUND: Multisystem inflammatory syndrome in children (MIS-C) is a pediatric complication of severe acute respiratory syndrome coronavirus 2 infection that is characterized by multiorgan inflammation and frequently by cardiovascular dysfunction. It occurs predominantly in otherwise healthy children. We previously reported haploinsufficiency of suppressor of cytokine signaling 1 (SOCS1), a negative regulator of type I and II interferons, as a genetic risk factor for MIS-C. OBJECTIVES: We aimed to identify additional genetic mechanisms underlying susceptibility to severe acute respiratory syndrome coronavirus 2-associated MIS-C. METHODS: In a single-center, prospective cohort study, whole exome sequencing was performed on patients with MIS-C. The impact of candidate variants was tested by using patients' PBMCs obtained at least 7 months after recovery. RESULTS: We enrolled 18 patients with MIS-C (median age = 8 years; interquartile range = 5-12.25 years), of whom 89% had no conditions other than obesity. In 2 boys with no significant infection history, we identified and validated hemizygous deleterious defects in XIAP, encoding X-linked inhibitor of apoptosis, and CYBB, encoding cytochrome b-245, beta subunit. Including the previously reported SOCS1 haploinsufficiency, a genetic diagnosis was identified in 3 of 18 patients (17%). In contrast to patients with mild COVID-19, patients with defects in SOCS1, XIAP, or CYBB exhibit an inflammatory immune cell transcriptome with enrichment of differentially expressed genes in pathways downstream of IL-18, oncostatin M, and nuclear factor kappaB, even after recovery. CONCLUSIONS: Although inflammatory disorders are rare in the general population, our cohort of patients with MIS-C was enriched for monogenic susceptibility to inflammation. Our results support the use of next-generation sequencing in previously healthy children who develop MIS-C. |*Disease Susceptibility[MESH] |*Genetic Predisposition to Disease[MESH] |Biomarkers[MESH] |COVID-19/complications/diagnosis/*etiology/*metabolism/virology[MESH] |Child[MESH] |Child, Preschool[MESH] |Cytokines/metabolism[MESH] |Female[MESH] |Host-Pathogen Interactions/immunology[MESH] |Humans[MESH] |Male[MESH] |SARS-CoV-2[MESH]Mechanisms underlying genetic susceptibility to multisystem inflammato(epmc).pdf DeepDyve Pubget Overpricing