Article
A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.
Annals of the rheumatic diseases - 1 Dec 2017
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
Abstract excerpt
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 consistent with PAAND in whom the novel p.E244K MEFV mutation, located in the +2 site of the 14-3-3 binding motif...
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