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Article

Contrasting role of NLRP12 in autoinflammation: evidence from a case report and mouse models.

RMD open - 1 Oct 2021

Lévy Dan, Mariotte Alexandre, DeCauwer Aurore, Macquin Cecile, Pichot Angélique, Molitor Anne, Maurier Francois, Meyer Alain, Carapito Raphael, Georgel Philippe

Abstract excerpt

OBJECTIVE: 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. METHODS: Whole exome sequencing and Nlrp12 targeted resequencing were performed on DNA isolated from the patient and her family members. In vivo and ex...

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Identifiers

PMID: 34725261
DOI: 10.1136/rmdopen-2021-001824
PMCID: PMC8562517

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