Minimal clinical variations, a unique biochemical-specific abnormality and the mode of genetic inheritance distinguish the four main diseases: familial Mediterranean fever, hyper-immunoglobulinemia D, TNF-recep
Falling into TRAPS - receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res Ther 2007; 9:217.Kimberley FC, Lobito AA, Siegel RM, et al. Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res Ther ...
佳学基因采用基因解码表明,TNF受体相关周期性发热综合征(TNF receptor-associated periodic fever syndrome,TRAPS)是由TNFRSF1A基因突变引起的一种遗传性疾病。这种突变会导致TNF受体的功能异常,进而引发周期性发热、关节炎、皮肤病变等症状。TRAPS是一种常染色体显性遗传疾病,意味着只需一个突变的基因就足以导致疾病发生。
肿瘤坏死因子受体相关周期热综合征(TNF receptor-associated periodic syndrome,TRAPS)是因肿瘤坏死因子受体超家族1A(TNF receptor superfamily member 1A,TNFRSF1A)基因突变引起TNFR1功能异常的常染色体显性遗传病。多在幼儿期发病,表现为反复发热、腹痛、肌痛、眶周水肿以及急性期反应物升高等,可导致淀粉样变[5]。TRAPS...
Li and Lu Pediatric Rheumatology (2024) 22:11 https://doi.org/10.1186/s12969-023-00952-2 Pediatric Rheumatology CASE REPORT Open Access Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review Yandie Li1 and Meiping...
肿瘤坏死因子-α(tumor necrosis factor-α,TNF-α)是一种参与急慢性炎症、抗肿瘤反应的多效因子,TNF-α抑制剂已广泛应用于类风湿关节炎、银屑病关节炎和炎性肠病等疾病[2],并能有效治疗多种SAIDs,如肿瘤坏死因子受体相关周期热综合征(TNF receptor-as...
TNF receptor-associated periodic syndrome，TRAPS)是因肿瘤坏死因子受体超家族1A(TNF receptor superfamily...
Steiner JD, Annibal A, Laboy R, et al. A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signature [published online ahead of print, 2023 Feb 8]. Rheumatology (Oxford)...
Background Tumor necrosis factor (TNF) receptor-1 associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory syndrome caused by pathogenic variants in the tumor necrosis factor receptor 1 (TNFR1) gene (TNF receptor superfamily member 1A, TNFRSF1A). For definitive diagnosis, ...
There are four well-defined genetic diseases that affect ligand:receptor interactions in the TNFR SF: X-linked hyper IgM syndrome (HIGM-1, involving CD40:CD40L), the autoimmune lymphoproliferative syndrome (ALPS, involving Fas:FasL), TNF receptor-associated periodic syndrome (TRAPS, involving TNFR1...