Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation

OBJECTIVE: NLRP12 mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was undertaken to characterize NLRP12 mutations in patients with autoinflammatory syndromes, particularly a novel missense mutation, p.D294E, affecting a protein sequence crucial...

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Hauptverfasser: Borghini, S, Tassi, S, Chiesa, S, Caroli, F, Carta, S, Caorsi, R, Fiore, M, Delfino, L, Lasigliè, D, Ferraris, C, Traggiai, E, Di Duca, M, Santamaria, G, D'Osualdo, A, Tosca, M, Martini, A, Ceccherini, I, Rubartelli, A, Gattorno, M
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley Subscription Services, Inc., A Wiley Company 2011
Schlagworte:
Autoinflammatory Disease
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3112487/
https://ncbi.nlm.nih.gov/pubmed/21360512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.30170
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