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The Emerging Role of Pyrin Genes in Autoinflammatory Diseases

Christine Kilcline, MD; Kanade Shinkai, MD, PhD; Alanna Bree, MD; Renee Modica, MD; Emily Von Scheven, MD; Ilona J. Frieden, MD

Arch Dermatol. 2005;141:248-253.

Neonatal-onset multisystem inflammatory disorder (NOMID) is a rare congenital disorder characterized by a neonatal-onset urticarial rash, arthropathy, recurrent fevers, and central nervous system disease. We report 3 cases in which patients presented with neonatal-onset urticarial eruption and other organ involvement of varying severity. Genetic testing of 2 of these patients revealed previously unreported genetic mutations in exon 3 of the CIAS1 gene, a recently discovered member of the pyrin gene family. The third patient did not demonstrate a CIAS1 mutation. These cases illustrate the genetic basis of NOMID, an autoinflammatory disorder, and highlight the emerging role of the pyrin gene family in the regulation of nuclear factor B signaling and other pathways involved in inflammation and apoptosis.

Author Affiliations: Departments of Dermatology and Pediatric Dermatology, University of California, San Francisco (Drs Kilcline, Shinkai, and Frieden); Department of Dermatology, St Louis University, St Louis, Mo (Dr Bree); and Department of Pediatrics and Rheumatology, University of California, San Francisco (Drs Modica and Von Scheven).

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