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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Autoinflammatory Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112487/
https://www.ncbi.nlm.nih.gov/pubmed/21360512
http://dx.doi.org/10.1002/art.30170

Ejemplares similares

Ejemplares similares