NLRP3相关自身炎症性疾病(NLRP3-AID)是一种罕见的常染色体显性遗传性疾病,由NLRP3突变导致,又称为冷炎素相关周期性综合征(CAPS)。既往文献表明,71% 的NLRP3-AID 患者会出现不同程度的眼科表现,其中最常见的是结膜炎、葡萄膜炎、视乳头水肿...
NLRP3相关自身炎症性疾病( NLRP 3-AID)是一种罕见的常染色体显性遗传性疾病,由 NLRP 3突变导致,又称为冷炎素相关周期性综合征(CAPS)。既往文献表明,71% 的 NLRP 3-AID 患者会出现不同程度的眼科表现,其中最常见的是结膜炎、葡萄膜炎、视乳头水肿等。然而,视网膜病变在 NLRP 3-AID中的研究较少。本队列研究...
Purpose. NLRP3-associated autoinflammatory disease (NLRP3-AID) is characterized by gain-of-function variants in the NLRP3 gene. Since there are little literature focusing on pediatric NLRP3-AID in China, we aimed to elucidate the phenotypic and genotypic profiles of Chinese patients with NLRP3-...
上海威奥生物科技有限公司生产的 ELISA 试剂盒采用“夹心法”:将捕获抗体包被于酶标板上,捕获样品及标准品中的靶蛋白,生物素化的检测抗体与靶蛋白结合, SABC 复合物与生物素化检测抗体结合,形成免疫复合物,加入TMB 显色液后,若反应孔中有靶蛋白则显蓝色,加入终止液变黄色,检测过程中游离的成分均被洗去,用酶标仪...
Besides, we also found clubbing fingers and optic neuritis in some NLRP3-AID patients, which were not commonly mentioned in previous reports.In our study, we expanded the clinical spectrum as well as the genetic pathogenic variants of NLRP3-AID. We also found that there were some differences ...
Jayakrishna Ambatija9qr@virginia.eduhttps://orcid.org/0000-0003-1622-6365View further author informationBradley D. GelfandView further author informationJayakrishna Ambatija9qr@virginia.eduhttps://orcid.org/0000-0003-1622-6365View further author information...
NLRP3‐AIDvariationTo determine the molecular and cellular basesof autoinflammatory syndromes in a multigenerational French family with Muckle‐Wells syndrome and in a patient originating from Portugal with familial cold autoinflammatory syndrome.doi:10.1002/acr2.1039Fawaz Awad...
Jayakrishna Ambatija9qr@virginia.eduhttps://orcid.org/0000-0003-1622-6365View further author informationBradley D. GelfandView further author information
NLRP3相关自身炎症性疾病( NLRP 3-AID)是一种罕见的常染色体显性遗传性疾病,由 NLRP 3突变导致,又称为冷炎素相关周期性综合征(CAPS)。既往文献表明,71% 的 NLRP 3-AID 患者会出现不同程度的眼科表现,其中最常见的是结膜炎、葡萄膜炎、视乳头水肿等。然而,视网膜病变在 NLRP 3-AID中的研究较少。本队列研究...
Response to 鈥楨arly Onset Drusen and RPE Dysfunction in a Patient with NLRP3-AID鈥Jayakrishna AmbatiBradley D. Gelfand