Guidelines for the genetic diagnosis of hereditary recurrent fevers

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Shinar Y., Obici L., Aksentijevich I., Bennetts B., Austrup F., Ceccherini I., ...More

ANNALS OF THE RHEUMATIC DISEASES, vol.71, no.10, pp.1599-1605, 2012 (SCI-Expanded) identifier identifier identifier


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.