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• W3210543147 abstract "To explore at the molecular level the phenotype of a patient suffering an autoinflammatory syndrome which was diagnosed as familial cold autoinflammatory syndrome type 2 (FCAS-2). To explore the functions of Nlrp12 in inflammation using mouse models.Whole exome sequencing and Nlrp12 targeted resequencing were performed on DNA isolated from the patient and her family members. In vivo and ex vivo models of inflammation (urate crystals-dependent acute joint inflammation and urate crystals-induced peritonitis) were analysed in Nlrp12-deficient and Nlrp12-competent mice.A rare missense NLRP12 variant (c.857C>T, p.P286L) was identified in the patient and her healthy relatives. Nlrp12-deficient mice exhibit reduced systemic inflammation and neutrophilic infiltration.Nlrp12 mediates proinflammatory functions in mice. In humans, the identification of Nlrp12 variants must be cautiously interpreted depending on clinical and paraclinical data to diagnose FCAS-2." @default.
• W3210543147 created "2021-11-08" @default.
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• W3210543147 date "2021-10-01" @default.
• W3210543147 modified "2023-10-09" @default.
• W3210543147 title "Contrasting role of <i>NLRP12</i> in autoinflammation: evidence from a case report and mouse models" @default.
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• W3210543147 doi "https://doi.org/10.1136/rmdopen-2021-001824" @default.
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