Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/41407
Title: A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.
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Issue Date: Dec-2017
Citation: Ann. Rheum. Dis..2017 Dec;(76)12:2085-2094
Abstract: 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 in pyrin, has been found.
PMID: 28835462
URI: https://hdl.handle.net/20.500.12530/41407
Rights: openAccess
Appears in Collections:Hospitales > H. U. 12 de Octubre > Artículos

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