New Classification Criteria Describe Several Hereditary Fevers

The criteria developed in this way also received cross-sectional validation.

The real advance of this approach has been to come up with criteria combining clinical manifestations with genotypes, with a new emphasis on molecular analysis, in trying to clarify these conditions.

Larry Beresford is a medical journalist in Oakland, Calif.

References

Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019 Aug; 78(8):1025–1032.
De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med. 2018 May; 378(20):1908–1919.

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Familial Mediterranean fever a frequently misdiagnosed autoinflammatory disease

Systemic autoinflammatory diseases (SAIDs) are rare syndromes characterized by alterations in innate immunity that result in a variety of clinical manifestations that are usually associated with recurrent fevers.1 Thanks to advances in genetic sequencing over the past few years, monogenic causes for some of these autoinflammatory diseases, such as Yao syndrome, have been discovered.2 Previously…

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