Kilcline Christine, Shinkai Kanade, Bree Alanna, Modica Renee, Von Scheven Emily, Frieden Ilona J
Department of Dermatology, University of California, San Francisco 94143-0316, USA.
Arch Dermatol. 2005 Feb;141(2):248-53. doi: 10.1001/archderm.141.2.248.
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.
新生儿期起病的多系统炎症性疾病（NOMID）是一种罕见的先天性疾病，其特征为新生儿期起病的荨麻疹样皮疹、关节病、反复发热和中枢神经系统疾病。我们报告3例患者，他们均表现为新生儿期起病的荨麻疹样皮疹及其他不同程度的器官受累。其中2例患者的基因检测显示，CIAS1基因第3外显子存在此前未报道的基因突变，CIAS1基因是最近发现的吡啉基因家族成员。第3例患者未显示CIAS1基因突变。这些病例说明了NOMID这一自身炎症性疾病的遗传基础，并突出了吡啉基因家族在调节核因子κB信号通路及其他参与炎症和凋亡的通路中日益重要的作用。
