title: Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases.
abstract: 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 kappaB signaling and other pathways involved in inflammation and apoptosis.
authors.affiliation: Department of Dermatology, University of California, San Francisco 94143-0316, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Kilcline
authors.forename: Kanade
authors.initials: K
authors.lastname: Shinkai
authors.forename: Alanna
authors.initials: A
authors.lastname: Bree
authors.forename: Renee
authors.initials: R
authors.lastname: Modica
authors.forename: Emily
authors.initials: E
authors.lastname: Von Scheven
authors.forename: Ilona J
authors.initials: IJ
authors.lastname: Frieden
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin; D018570:Risk Assessment; D012494:Sampling Studies; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D007166:Immunosuppressive Agents; C000604192:MEFV protein, human; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D011506:Proteins; D000071198:Pyrin