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Updated: Jul 2, 2025

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在患有雅奥综合征的患者中确定NOD2变异Q902K的功能失调

Jingyuan Zhang1, Yi Luo1, Bingxuan Wu1

  • 1Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH; Department of Rheumatology and Clinical Immunology, PUMCH; National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology; Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.

Arthritis research & therapy
|February 23, 2024
PubMed
概括

氏综合征 (YAOS) 的发病包括过度活跃的NOD2信号和炎症性细胞因子. 准NOD2-RIP2-MAPK通路为这种罕见的自身炎症性疾病提供了新的治疗选择.

关键词:
含有2 (NOD2) 的核酸结合寡合化域.病变的发生和发病.系统性自身炎症性疾病 系统性自身炎症性疾病氏综合症 (Yao Syndrome) 是一种

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