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 / Cantarini, Luca; Vitale, Antonio; Lucherini, Orso Maria; De Clemente, Caterina; Caso, Francesco; Costa, Luisa; Emmi, Giacomo; Silvestri, Elena; Magnotti, Flora; Maggio, Maria Cristina; Prinzi, Eugenia; Lopalco, Giuseppe; Frediani, Bruno; Cimaz, Rolando; Galeazzi, Mauro; Rigante, Donato. - In: CLINICAL RHEUMATOLOGY. - ISSN 0770-3198. - STAMPA. - 34:(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

Cantarini, Luca;Silvestri, Elena;CIMAZ, ROLANDO;
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.
2015
34
17
28
Cantarini, Luca; Vitale, Antonio; Lucherini, Orso Maria; De Clemente, Caterina; Caso, Francesco; Costa, Luisa; Emmi, Giacomo; Silvestri, Elena; Magnotti, Flora; Maggio, Maria Cristina; Prinzi, Eugenia; Lopalco, Giuseppe; Frediani, Bruno; Cimaz, Rolando; Galeazzi, Mauro; Rigante, Donato
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1055819
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