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.
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.
科学领域:
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
- 类风湿病学 类风湿病学
背景情况:
- 与NLRP12相关的自身炎症性疾病 (NLRP12-AID) 是一种罕见的遗传性疾病.
- 它的特征是由于NLRP12基因变异的反复炎症发作.
结论:
- 这项研究代表了全球最大的NLRP12-AID队列.
- 中国患者出现了更多的非特异性症状,可能是由于外因子-3变异的频率较低.
- 非外因子-3变体与眼睛,喉,头痛和淋巴腺病的增加有关.
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