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

Clin Rheumatol. 2015 Jan;34(1):17-28. doi: 10.1007/s10067-014-2721-0. Epub 2014 Jun 24.

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.

Publication types

  • Review

MeSH terms

  • Adult
  • Age Factors
  • Child
  • Diagnosis, Differential
  • Hereditary Autoinflammatory Diseases / diagnosis*
  • Hereditary Autoinflammatory Diseases / genetics
  • Hereditary Autoinflammatory Diseases / therapy*
  • Humans
  • Immunity, Innate / genetics*
  • Italy