在中国成年患者中与NLRP12相关的自身炎症性疾病:单中心研究

Junke Miao1, Jingyuan Zhang1, Xin Huang1

  • 1Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, 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, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

RMD open
|December 20, 2023
PubMed
概括

这项研究介绍了NLRP12相关自身炎症性疾病 (NLRP12-AID) 的最大队列,确定了七种新的NLRP12变体. 中国患者表现出明显的症状,如喉炎和淋巴腺病变,可能与较少的外因子-3变体有关.