相关数据集
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review
Autoinflammatory diseases (AIDs) are conditions related to defective regulation of the innate immune system. Sanger sequencing of the causative genes has long been the reference for confirming the dia
Mendeley Data2024-06-25 更新70
CommsBio_2025
Aberrant activation of the NLRP3 inflammasome contributes to a wide range of chronic inflammatory disorders. Here, we investigate small-molecule inhibitors originally developed to target the DNA repai
NIAID Data Ecosystem50
Supplementary material Table S2. The 39 PSTPIP1 variants found in the study.
*Possible misdiagnosed PAMI Each variant was classified by the ISSAID expert consortium and is accessible in the Infevers database. When missing, the classification was assessed according to American
NIAID Data Ecosystem30
Table_1_Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.DOCX
Background: The NLRP3 inflammasome has been recognized as one of the key components of innate immunity. Gain-of-function mutations in the exon 3 of NLRP3 gene have been implicated in inflammatory dise
NIAID Data Ecosystem70
2017-2018年北京自身炎症性疾病高通量测序数据
依据项目任务书和考核指标，本项目产生的科学数据包括：自身炎症性疾病患者高通量测序的数据，共计100例，采集地点为北京，采集时间为2017-2018年，分别在本实验或者北京诺禾致源科技股份有限公司进行高通量测序。
国家人口健康科学数据中心50
