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Abstract：
Yao syndrome, a rare autoinflammatory disorder linked to mutations in the nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene, manifests through periodic fever, polyarthritis, dermatitis, gastrointestinal disturbances, and sicca-like symptoms. The therapeutic landscape is limited, primarily encompassing glucocorticoids, interleukin-1 (IL-1), and IL-6 inhibitors. This report details the case of a teenager with periodic fevers, arthritis, livedo reticularis, and NOD2 gene mutations R702W and IVS8+158C consistent with Yao syndrome. The individual demonstrated significant improvement with canakinumab therapy. This case report aims to enhance recognition and understanding of Yao syndrome\'s clinical spectrum and management options.
摘要：
瑶族综合征,一种罕见的自身炎症性疾病，与含核苷酸结合寡聚化结构域的蛋白2（NOD2）基因突变有关，表现为周期性发烧，多发性关节炎,皮炎,胃肠道紊乱，和干燥样症状.治疗前景有限，主要包括糖皮质激素，白细胞介素-1（IL-1），和IL-6抑制剂。这份报告详细介绍了一名青少年周期性发烧的情况，关节炎,网状livedo,NOD2基因突变R702W和IVS8+158C与瑶族综合征一致。个体在canakinumab治疗下表现出显著的改善。本病例报告旨在提高对姚氏综合征临床谱和治疗方案的认识和理解。
