Modified eosinophil adhesion in pulmonary alveolar proteinosis caused by <i>CSF2RA</i> deletion
Modified eosinophil adhesion in pulmonary alveolar proteinosis caused by <i>CSF2RA</i> deletion
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<i>CSF2RA</i> 缺失引起的肺泡蛋白沉积症中嗜酸性粒细胞粘附的改变
DOI：
10.1016/j.alit.2019.05.015
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发表时间：
2019
影响因子：
6.8
通讯作者：
Nagata M.
中科院分区：
文献类型：
--
作者：
Uchida Y;Nakagome K;Tazawa R;Akasaka K;Ito M;Haga Y;Komiyama KI;Soma T;Nakata K;Nagata M.
肺泡蛋白沉积症（PAP）的特点是表面活性剂稳态受损，肺泡间隙内脂蛋白物质积聚，导致呼吸衰竭。PAP有三种不同的形式：自身免疫性、继发性和遗传性。自身免疫性PAP是由GM-CSF自身抗体破坏GM-CSF信号引起的。继发性PAP与血液病等基础疾病有关。遗传性PAP与表面活性剂蛋白(SP)-B、SP- c或ABCA3等基因编码缺陷有关。GM-CSF信号在PAP的发病机制中起重要作用。GM-CSF受体（GMeCSFeR）由结合a链和共同b （bc）链组成，IL-3和IL-5也利用b （bc）链。近年来发现部分遗传性PAP患者GMeCSFeR表达存在缺陷。2 e4也有由GMeCSFeRa基因（CSF2RA）编码区突变引起的PAP病例。2,3在这些伴有GM-CSF受体功能障碍的PAP病例中，BAL液和血清中GM-CSF水平均升高。由于自身免疫性PAP的典型特征是肺中GM-CSF的中和，因此GM-CSF水平升高有助于区分自身免疫性PAP和GM-CSF受体功能障碍PAP。
Pulmonary alveolar proteinosis (PAP) is characterized by impaired surfactant homeostasis and accumulation of lipoproteinaceous material within the alveolar space, resulting in the development of respiratory failure. 1 There are three distinct forms of PAP: autoimmune, secondary, and hereditary. Autoimmune PAP is caused by the disruption of GM-CSF signaling by autoantibodies to GM-CSF. Secondary PAP is related to underlying diseases such as hematologic diseases. Hereditary PAP is associated with a deficiency of gene encoding such as surfactant protein (SP)-B, SP-C, or ABCA3.GM-CSF signaling plays important role (s) in the pathogenesis of PAP. GM-CSF receptor (GMeCSFeR) is composed of the binding a chain and the common b (bc) chain that is also utilized by IL-3 and IL-5. Recently, it was found that some cases of hereditary PAP show defects in GMeCSFeR expression. 2 e4 There are also cases of PAP caused by mutations in the coding region of the GMeCSFeRa gene (CSF2RA). 2, 3 In these PAP cases with GM-CSF receptor dysfunction, levels of GM-CSF in both BAL fluid and serum are increased. As autoimmune PAP is typically characterized by neutralization of GM-CSF in the lung, an elevated GM-CSF level is useful in distinguishing between autoimmune and GM-CSF receptor dysfunction PAP.