摘要
Neonatal-onset multisystem inflammatory disorder (NOMID)is a rare congenital disorder characterized by a neonatal-onset urticarialrash,arthropathy,recurrentfevers,andcentralnervous 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 κ B signaling and other pathways involved in inflammation and apoptosis.
Neonatal-onset multisystem inflammatory disorder (NOMID)is a rare congenital disorder characterized by a neonatal-onset urticarialrash,arthropathy,recurrentfevers,andcentralnervous 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 κ B signaling and other pathways involved in inflammation and apoptosis.
