Department of Pediatric Rheumatology and Immunology, Dongguan Children's Hospital, Dongguan, Guangdong, China.
Department of Pediatric Rheumatology and Immunology, Huizhou Central People's Hospital, Huizhou, Guangdong, China.
Front Immunol. 2023 Oct 3;14:1238551. doi: 10.3389/fimmu.2023.1238551. eCollection 2023.
Cryopyrin-associated periodic syndromes (CAPS) have been considered autoinflammatory diseases resulting from gene mutations. In recent years, these conditions have been redefined as -associated autoinflammatory diseases (-AID). Our previous study highlighted a case of a Chinese individual carrying the mutation.
A female child carrying a variant (c.1718T>G, p. L573W) in the gene was presented in this work. The patient manifested various symptoms, including recurrent fever, a rash resembling urticaria, arthritis, physical growth retardation, a notable prominence of the forehead, and a flat nose bridge. Additionally, inflammatory markers, like WBC count, PLT count, CRP, ESR, and IL-6 showed elevated levels. Additionally, we observed interstitial pulmonary disease in the patient, which is not frequently mentioned in previous studies. Notably, the proband did not present with any ocular, auditory, or neurological symptoms. After 12 weeks of subcutaneous canakinumab injection, there was a clear improvement in the patient's clinical manifestations and inflammatory markers.
Our study contributes to broadening the clinical spectrum of established pathogenic variants of gene, which are related to NLRP3-AID.
冷吡啉相关周期性综合征 (CAPS) 被认为是由基因突变引起的自身炎症性疾病。近年来，这些病症被重新定义为 NLRP3 相关自身炎症性疾病 (NLRP3-AID)。我们之前的研究强调了一名携带 突变的中国个体的病例。
本研究介绍了一名携带 基因中的 变异（c.1718T>G，p. L573W）的女性患儿。该患者表现出多种症状，包括反复发热、荨麻疹样皮疹、关节炎、身体生长发育迟缓、额头明显突出和鼻梁扁平。此外，炎症标志物，如白细胞计数、血小板计数、CRP、ESR 和 IL-6 水平升高。此外，我们观察到该患者存在间质性肺病，这在以前的研究中很少提及。值得注意的是，该先证者没有出现任何眼部、听觉或神经系统症状。在接受皮下注射卡那单抗 12 周后，患者的临床表现和炎症标志物明显改善。
我们的研究有助于拓宽与 NLRP3-AID 相关的 NLRP3 基因已建立致病性变异的临床谱。
