Current Status of Understanding the Pathogenesis and Management of Patients With NOMID/CINCA

Article

DOI: 10.1007/s11926-011-0165-y

Cite this article as:
Goldbach-Mansky, R. Curr Rheumatol Rep (2011) 13: 123. doi:10.1007/s11926-011-0165-y

Abstract

Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, and arthritis (CINCA) syndrome is the most severe clinical phenotype in the spectrum of cryopyrin- (NLRP3/NALP3) associated periodic syndromes (CAPS). The study of patients with NOMID/CINCA has been instrumental in characterizing the extent of organ-specific inflammatory manifestations and damage that can occur with chronic interleukin (IL)-1β overproduction. Mutations in CIAS1/NLRP3 lead to constitutive activation of the “NLRP3 inflammasome,” an intracellular platform that processes and secretes increased amounts of IL-1β. The pivotal role of IL-1β in NOMID/CINCA has been demonstrated in several clinical studies using IL-1—blocking agents that lead to rapid resolution of the inflammatory disease manifestations. NOMID/CINCA is a monogenic autoinflammatory syndrome; and the discovery of the role of IL-1 in NOMID has led to the exploration in the role of IL-1 in other disorders including gout and Type II diabetes. The inflammation in NOMID/CINCA is continuous with intermittent flares, and organ manifestations encompus the central nervous system, eye, inner ear, and bones. This review discusses updates on the pathogenesis of NOMID/CAPS, emerging long term-outcome data regarding IL-1—blocking agents that have influenced our considerations for optimal treatment, and a monitoring approach tailored to the patient’s disease severity and organ manifestations.

Keywords

IL-1 Autoinflammatory diseases NOMID CINCA NLRP3 CIAS1 CAPS IL-1Ra Anakinra Neonatal disorder Genetic disease 

Copyright information

© Springer Science+Business Media, LLC (outside the USA) 2011

Authors and Affiliations

  1. 1.Translational Autoinflammatory Disease SectionNational Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of HealthBethesdaUSA

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