Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing.
Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.
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Collaborators Hatem El Shanti, Marianne Jakobsen, Kostas Kostantopoulos, Davide Martorana, Maria Grazia Pomponi, Alison Bybee, Catherine Rydlewski
Note added in proof While this manuscript was in press, a new article by Verma et al demonstrated a possible functional role of pQ703K (Q705K) in the regulation of inflammation.This variant should therefore be considered a VUS (should be in normal letters in table 1). The Q705K Polymorphism in NLRP3 Is a Gain-of-Function Alteration Leading to Excessive Interleukin-1β and IL-18 Production. Verma D, Särndahl E, Andersson H, et al.PLoS One. 2012;7:e34977. Epub 2012 Apr 17.
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Correction notice This article has been corrected since it was published Online First.
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