Deparment of Pediatric Nephrology, Rheumatology and Immunity, The Affiliated Hospital of Qingdao University, Qingdao, China.
Deparment of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Pediatr Rheumatol Online J. 2023 Feb 10;21(1):15. doi: 10.1186/s12969-023-00795-x.
Cryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). MWS is caused by dominantly inherited or de novo gain-of-function mutations in the NOD-like receptor 3 (NLRP3) gene. At present, there is no report about the variation of R262W in China.
We reported a 3-year-old Chinese boy who had recurrent fever without obvious inducement, bilateral conjunctival congestion, and urticarial-like rash. Laboratory examination showed elevation in leukocyte count, neutrophil count, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) and serum amyloid protein (SAA) levels. Whole exome sequencing identified a missense variation c.784-786delinsTGG (p.R262W) in the coding region of the NLRP3 gene.
A classical variant of the NLRP3 gene in a patient with MWS was first reported in China.
冷吡啉相关周期性综合征（CAPS）是一种罕见的遗传性自身免疫性疾病，由家族性冷自身炎症综合征（FCAS）、穆勒-韦尔斯综合征（MWS）和新生儿发病的多系统炎症性疾病（NOMID）组成。MWS 是由 NOD 样受体 3（NLRP3）基因的显性遗传或从头获得功能突变引起的。目前，中国尚无关于 R262W 变异的报道。
我们报告了一例 3 岁中国男孩，反复发热无明显诱因，双侧结膜充血，荨麻疹样皮疹。实验室检查显示白细胞计数、中性粒细胞计数、红细胞沉降率（ESR）、C 反应蛋白（CRP）和血清淀粉样蛋白（SAA）水平升高。全外显子组测序在 NLRP3 基因编码区发现一处错义变异 c.784-786delinsTGG（p.R262W）。
在中国首次报道了一例 MWS 患者 NLRP3 基因的经典变异。
