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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

28 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)17-28
Numero di pagine12
RivistaCLINICAL RHEUMATOLOGY
Volume2015
DOI
Stato di pubblicazionePubblicato - 2015

Keywords

  • Autoinflammation

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