This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (10)  • Contact me when this article is cited  Related Content  • Related article  • Similar articles in this journal  Topic Collections  • Genetics  • Genetic Disorders  • Pediatrics  • Neonatology and Infant Care  • Dermatologic Disorders, Other  • Alert me on articles by topic

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).

RELATED ARTICLE

The Pyrin Family of Fever Genes: Unmasking Genetic Determinants of Autoinflammatory Disease
Kanade Shinkai, Christine Kilcline, M. Kari Connolly, and Ilona J. Frieden
Arch Dermatol. 2005;141(2):242-247.
EXTRACT | FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Autoinflammatory diseases: an update of clinical and genetic aspects
Yao and Furst
Rheumatology (Oxford) 2008;47:946-951.
ABSTRACT | FULL TEXT  

The Anesthetic Management of Children with Neonatal-Onset Multi-System Inflammatory Disease
Lauro et al.
Anesth. Analg. 2007;105:351-357.
ABSTRACT | FULL TEXT  

Clinical and genetic characterization of Italian patients affected by CINCA syndrome
Caroli et al.
Rheumatology (Oxford) 2007;46:473-478.
ABSTRACT | FULL TEXT  

Phenotype, Genotype, and Sustained Response to Anakinra in 22 Patients With Autoinflammatory Disease Associated With CIAS-1/NALP3 Mutations
Leslie et al.
Arch Dermatol 2006;142:1591-1597.
ABSTRACT | FULL TEXT  

Biotechnology Succeeds in Revolutionizing Medical Science
Robinson and Callen
Arch Dermatol 2005;141:133-134.
FULL TEXT  

The Pyrin Family of Fever Genes: Unmasking Genetic Determinants of Autoinflammatory Disease
Shinkai et al.
Arch Dermatol 2005;141:242-247.
FULL TEXT