缺陷的 CSF2RB 导致 SMDP5
中文名称
通路描述
肺泡巨噬细胞对表面活性物质的分解在表面活性物质的回收和代谢中起着虽小但关键的作用。在配体结合后，粒细胞 - 巨噬细胞集落刺激因子受体 (GM-CSFR)，由α (CSF2RA) 和β (CSF2RB) 亚基组成的异二聚体，启动了一个信号传导过程，不仅诱导造血细胞的增殖、分化和功能激活，还可以决定表面活性物质被吸入肺泡巨噬细胞并通过氯仿包被小泡进行降解。人类 CSF2RB 缺陷可导致肺表面活性物质代谢功能障碍 5 (SMDP5; MIM:614370，即肺泡蛋白沉积症 5，PAP5)，这是一种罕见的肺部疾病，由于表面活性物质稳态受损而致病，其特征是肺泡充满团状物质导致呼吸衰竭 (Greenhill & Kotton 2009, Whitsett et al. 2015)。
英文描述
Defective CSF2RB causes SMDP5 Surfactant catabolism by alveolar macrophages plays a small but critical part in surfactant recycling and metabolism. Upon ligand binding, granulocyte-macrophage colony-stimulating factor receptor (GM-CSFR), a heterodimer of alpha (CSF2RA) and beta (CSF2RB) subunits, initiates a signalling process that not only induces proliferation, differentiation and functional activation of hematopoietic cells but can also determine surfactant uptake into alveolar macrophages and its degradation via clathrin-coated vesicles. Defects in human CSF2RB can cause pulmonary surfactant metabolism dysfunction 5 (SMDP5; MIM:614370, aka pulmonary alveolar proteinosis 5, PAP5), a rare lung disorder due to impaired surfactant homeostasis characterised by alveoli filling with floccular material causing respiratory failure (Greenhill & Kotton 2009, Whitsett et al. 2015).
所含基因
7 个基因