介素-1受体对抗剂的缺乏:一个系统性审查
Wérgila Ruana Gonçalves Barros1, Jucier Gonçalves Júnior2,3
1Department of Internal Medicine, Escola de Saúde Pública do Estado do Ceará, Juazeiro do Norte, Brazil.
Archives of rheumatology
|March 10, 2025
概括
介素-1受体对手 (DIRA) 缺乏主要影响四岁左右的男性,出现发烧和骨关节问题. 卡纳基努马布是首选的治疗方法,尽管还有其他治疗方法.
科学领域:
- 遗传学和免疫学 遗传学和免疫学
- 罕见的遗传疾病 罕见的遗传疾病
- 系统文献综述 系统文献综述
背景情况:
- 介素-1受体对手 (DIRA) 缺乏症是一种罕见的自身炎症性疾病.
- 了解DIRA的流行病学,病理生理学和临床谱系对于诊断和管理至关重要.
- 目前的文献提供了DIRA的遗传基础和临床表现的见解.
研究的目的:
- 系统地审查DIRA的流行病学,病理生理学,临床表现,诊断和治疗.
- 评估现有科学文献对DIRA临床和流行病学理解的实际贡献.
主要方法:
- 在PubMed,Scopus,Web of Science和虚拟健康图书馆 (2009年1月 - 2024年6月) 进行的系统文献审查.
- 遵守使用MeSH描述符的PRISMA协议:"互乐金-1受体对抗剂缺乏"",流行病学"",临床表现"",治疗"和"生理病理学".
- 选了3749篇文章,其中18篇被选择进行分析.
主要成果:
- DIRA主要影响四岁左右的男性,具有地理位置可变的IL-1RN突变.
- 常见的症状包括发烧,骨关节表现 (关节痛,合,骨折,骨质炎),指甲变化,肺炎和静脉血栓.
- 没有特定的实验室标记物被确定;卡纳基努马布是首选的治疗方法,而葡萄糖皮质类药物,里洛纳塞普特和阿纳金拉作为替代方案.
结论:
- DIRA呈现出明显的临床表型,通常涉及全身炎症和骨异常.
- 基因突变在IL-1RN是潜在的原因,在全球范围内患病率不同.
- 使用卡纳基努马布的向治疗显示出有希望的结果,强调了早期诊断和干预的重要性.
相关概念视频
T Cell Types and Functions
756
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
756
The JAK-STAT Signaling Pathway
8.6K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...
8.6K
Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF
107
Tumor Necrosis Factor (TNF), a proinflammatory cytokine, contributes significantly to the inflammation seen in Crohn's disease. It exists as soluble TNF and membrane-bound TNF, with actions mediated through TNF receptors (TNFR). TNFR activation leads to the release of proinflammatory cytokines, T-cell activation, collagen production, and leukocyte migration, all contributing to inflammation in Crohn's disease. Anti-TNF monoclonal antibodies, namely infliximab (Remicade), adalimumab...
107
NF-κB-dependent Signaling Pathway
7.2K
The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The...
NF-κB-dependent Signaling Mechanism
The...
7.2K
Receptor Downregulation in MVBs
2.0K
Multivesicular bodies (MVBs) are mature endosomes that sort ubiquitinated proteins and then fuse with lysosomes to degrade the sorted proteins. Epidermal growth factor (EGF) and its receptor (EGFR) form a complex that can be internalized through endocytosis, sorted into an MVB, and later degraded.
The EGFR can initiate signaling pathways that lead to cell proliferation, migration, and differentiation. Overexpression of EGFR stimulates cells to proliferate. Excessive EGFR...
The EGFR can initiate signaling pathways that lead to cell proliferation, migration, and differentiation. Overexpression of EGFR stimulates cells to proliferate. Excessive EGFR...
2.0K


