Clinical Rheumatology

, Volume 34, Issue 1, pp 17–28

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

  • 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
  • Donato Rigante
Review Article

DOI: 10.1007/s10067-014-2721-0

Cite this article as:
Cantarini, L., Vitale, A., Lucherini, O.M. et al. Clin Rheumatol (2015) 34: 17. doi:10.1007/s10067-014-2721-0

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.

Keywords

AdulthoodAutoinflammationGenetic disordersInterleukin-1βPeriodic fever

Copyright information

© Clinical Rheumatology 2014

Authors and Affiliations

  • Luca Cantarini
    • 1
  • Antonio Vitale
    • 1
  • Orso Maria Lucherini
    • 1
  • Caterina De Clemente
    • 1
  • Francesco Caso
    • 1
    • 2
  • Luisa Costa
    • 3
  • Giacomo Emmi
    • 4
  • Elena Silvestri
    • 4
  • Flora Magnotti
    • 1
  • Maria Cristina Maggio
    • 5
  • Eugenia Prinzi
    • 6
  • Giuseppe Lopalco
    • 7
  • Bruno Frediani
    • 1
  • Rolando Cimaz
    • 8
  • Mauro Galeazzi
    • 1
  • Donato Rigante
    • 9
  1. 1.Research Center of Systemic Autoinflammatory Diseases and Behçet’s Disease, Department of Medical Sciences, Surgery and NeurosciencesUniversity of SienaSienaItaly
  2. 2.Rheumatology Unit, Department of Clinical and Experimental MedicineUniversity of PadovaPadovaItaly
  3. 3.Rheumatology Unit, Department of Clinical Medicine and SurgeryUniversity Federico IINaplesItaly
  4. 4.Department of Medical and Surgical Critical CareUniversity of FlorenceFlorenceItaly
  5. 5.Maternal and Child Health DepartmentUniversity of PalermoPalermoItaly
  6. 6.Univeritary Department Pro.Sa.M.I. “G. D’Alessandro”University of PalermoPalermoItaly
  7. 7.Interdisciplinary Department of Medicine, Rheumatology UnitUniversity of BariBariItaly
  8. 8.Department of Pediatrics, Rheumatology UnitAnna Meyer Children’s Hospital and University of FlorenceFlorenceItaly
  9. 9.Institute of Pediatrics, Policlinico A. GemelliUniversità Cattolica Sacro CuoreRomeItaly