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International Journal of Rheumatology
Volume 2013 (2013), Article ID 513782, 15 pages
http://dx.doi.org/10.1155/2013/513782
Review Article

Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues

1Rheumatology Unit, Department of Clinical and Experimental Medicine, University of Padua, Padova, Italy
2Institute of Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy
3Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, 53100 Siena, Italy
4Rheumatology Unit, Department of Clinical and Experimental Medicine, University Federico II, Naples, Italy
5University La Sapienza, Rome, Italy

Received 4 August 2013; Accepted 13 September 2013

Academic Editor: Luis R. Espinoza

Copyright © 2013 Francesco Caso et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-onset sarcoidosis, PAPA syndrome, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. Each of these conditions may manifest itself with more or less severe inflammatory symptoms of variable duration and frequency, associated with findings of increased inflammatory parameters in laboratory investigation. The purpose of this paper is to describe the main genetic, clinical, and therapeutic aspects of MAISs and their most recent classification with the ultimate goal of increasing awareness of autoinflammation among various internal medicine specialists.