Article
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Journal of medical genetics - 1 Aug 2018
Van Gijn Marielle E, Ceccherini Isabella, Shinar Yael, Carbo Ellen C, Slofstra Mariska, Arostegui Juan I, Sarrabay Guillaume, Rowczenio Dorota, Omoyımnı Ebun, Balci-Peynircioglu Banu, Hoffman Hal M, Milhavet Florian, Swertz Morris A, Touitou Isabelle
Abstract excerpt
BACKGROUND: Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing. OBJECTIVES: This study aimed to obtain an experts' consensus on the clinical significance of gene variants in four well-known HRF genes: MEFV, TNFRSF1A, NLRP3 and MVK. METHODS:...
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