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., De Clemente, C., Caso, F., Costa, L., et al. (2015). The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy. CLINICAL RHEUMATOLOGY, 34(1), 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

MAGGIO, Maria Cristina;PRINZI, Eugenia;
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.
Settore MED/38 - Pediatria Generale E Specialistica
Cantarini, L., Vitale, A., Lucherini, O., De Clemente, C., Caso, F., Costa, L., et al. (2015). The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy. CLINICAL RHEUMATOLOGY, 34(1), 17-28 [10.1007/s10067-014-2721-0].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10447/113524
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