The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy

Maria Cristina Maggio, Eugenia Prinzi, Orso Maria Lucherini, Francesco Caso, Giacomo Emmi, Caterina De Clemente, Elena Silvestri, Antonio Vitale, Flora Magnotti, Giuseppe Lopalco, Donato Rigante, Luisa Costa, Bruno Frediani, Mauro Galeazzi, Rolando Cimaz, Luisa Costa, Luca Cantarini

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)17-28
Number of pages12
JournalClinical Rheumatology
Volume34
Publication statusPublished - 2015

All Science Journal Classification (ASJC) codes

  • Rheumatology

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