治疗激活酸3-激酶三角综合征的关键结果:e-Delphi小组研究和应答者值应用
Julia E M Upton1,2, Kelli W Williams3, Andrew Cant4
1Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
PloS one
|October 15, 2025
概括
专家们就评估活性酸3-酶三角综合征 (APDS) 治疗有效性的关键结果达成共识. 这些发现为APDS建立了有意义的改善值,有助于优化临床治疗.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 活性酸3-激酶三角综合征 (APDS) 是一种极为罕见的,未被认可的免疫的先天性错误.
- 确定关键结果对于评估APDS治疗有效性和确定临床上有意义的益处至关重要.
研究的目的:
- 建立专家对评估APDS治疗有效性至关重要的结果的共识.
- 确定特定结果的百分比变化,表明在APDS患者中具有临床意义的益处.
主要方法:
- 一项e-Delphi小组研究,涉及28名全球APDS专家.
- 专家使用5点的利克尔特尺度,同意成人和儿科患者在治疗后3个月和6个月的结果的重要性.
- 共识被定义为≥75%的同意;有意义的改善百分比被评估并应用于试验数据.
主要成果:
- 在包括淋巴结大小,临床医生的印象,抗生素使用,生活质量,住院治疗,血小板减少,脏体积,淋巴减少和贫血在内的结果上达成了共识.
- 临床上有意义的改善在成年人中在3-6个月的20%-30%,在儿科中在3-6个月的20%-45%,跨关键指标.
- 列尼奥利西布治疗显著改善了淋巴结大小,脏体积和天真B细胞比率.
结论:
- 专家们就评估APDS治疗的关键结果和改善值达成共识.
- 这些定义的结果和值可以指导和优化APDS的临床管理.
相关概念视频
IP3/DAG Signaling Pathway
14.3K
Membrane lipids such as phosphatidylinositol (PI) are precursors for several membrane-bound and soluble second messengers. Specific kinases phosphorylate PI and produce phosphorylated inositol phospholipids. One such inositol phospholipids are the phosphatidylinositol-4,5 bisphosphate [PI(4,5)P2], present in the inner half of the lipid bilayer. Upon ligand binding, GPCR stimulates Gq proteins to turn on phospholipase Cꞵ. Activated phospholipase Cꞵ cleaves PI(4,5)P2 and...
14.3K
Phosphoinositides and PIPs
10.1K
Phosphoinositides are a group of phospholipids containing a glycerol backbone with two fatty acid chains and a phosphate attached to a myoinositol sugar ring. The inositol head group extends into the cytoplasm, where it is modified by adding phosphate groups to form phosphatidylinositol phosphates or PIPs.
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
10.1K
Amplifying Signals via Enzymatic Cascade
17.3K
When a ligand binds to a cell-surface receptor, the receptor's intracellular domain changes shape, which may either activate its enzyme function or allow its binding to other molecules. The initial signal is amplified by most signal transduction pathways. This means that a single ligand molecule can activate multiple molecules of a downstream target. Proteins that relay a signal are most commonly phosphorylated at one or more sites, activating or inactivating the protein. Kinases catalyze...
17.3K
Protein Kinases and Phosphatases
14.9K
Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
14.9K


