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


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


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.


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

Personalised recommendations