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|Title:||A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.|
Familial Mediterranean Fever
Hereditary Autoinflammatory Diseases
|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.|
|Appears in Collections:||Hospitales > H. U. 12 de Octubre > Artículos|
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