Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the period September 2007-March 2014, with a total of 1,328 AID-related genes evaluated and a gene/patient ratio of 1.69. In this report, we describe our experience in the clinical approach to AIDs, highlight the most striking differences between child and adult-onset AIDs, and shed an eye-opening insight into their diagnostic process.
Cantarini, L., Vitale, A., Lucherini, O. M., De Clemente, C., Caso, F., Costa, L., Emmi, G., Silvestri, E., Magnotti, F., Maggio, M. C., Prinzi, E., Lopalco, G., Frediani, B., Cimaz, R., Galeazzi, M., Rigante, D., The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy, <<CLINICAL RHEUMATOLOGY>>, 2015; 34 (1): 17-28. [doi:10.1007/s10067-014-2721-0] [http://hdl.handle.net/10807/87556]
The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy
Rigante, DonatoUltimo
2015
Abstract
Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the period September 2007-March 2014, with a total of 1,328 AID-related genes evaluated and a gene/patient ratio of 1.69. In this report, we describe our experience in the clinical approach to AIDs, highlight the most striking differences between child and adult-onset AIDs, and shed an eye-opening insight into their diagnostic process.
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