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.
The labyrinth of autoinflammatory disorders : a snapshot on the activity of a third-level center in Italy / L. Cantarini, A. Vitale, O.M. Lucherini, C. De Clemente, F. Caso, L. Costa, G. Emmi, E. Silvestri, F. Magnotti, M.C. Maggio, E. Prinzi, G. Lopalco, B. Frediani, R. Cimaz, M. Galeazzi, D. Rigante. - In: CLINICAL RHEUMATOLOGY. - ISSN 0770-3198. - 34:1(2015), pp. 17-28. [10.1007/s10067-014-2721-0]
The labyrinth of autoinflammatory disorders : a snapshot on the activity of a third-level center in Italy
R. Cimaz;
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.File | Dimensione | Formato | |
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