A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of Pyrin and distinction to Familial Mediterranean Fever

OBJECTIVE: Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation disrupts a binding motif of the regulatory 14-3-3 proteins within pyrin. Here we investigate a family with clinical features...

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Publicado no:Ann Rheum Dis
Main Authors: Moghaddas, Fiona, Llamas, Rafael, De Nardo, Dominic, Martinez-Banaclocha, Helios, Martinez-Garcia, Juan J., Mesa-del-Castillo, Pablo, Baker, Paul J., Gargallo, Vanessa, Mensa-Vilaro, Anna, Canna, Scott, Wicks, Ian P., Pelegrin, Pablo, Arostegui, Juan I., Masters, Seth L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5687562/
https://ncbi.nlm.nih.gov/pubmed/28835462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/annrheumdis-2017-211473
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