Plasma gelsolin (pGSN) is the secreted isoform of an intracellular actin remodeling protein found in high concentrations in human plasma. Clinical studies demonstrate reduced pGSN concentrations in several disease states, including severe trauma, burns, and sepsis. Markedly decreased pGSN concentrations in these conditions precede and predict adverse clinical outcomes. In this study, we measured pGSN in patients with chronic granulomatous disease (CGD), a primary immunodeficiency characterized by recurrent infections and dysregulated inflammation. pGSN was quantified using a sandwich ELISA in plasma from healthy volunteers, clinically stable CGD patients, and X-linked CGD carriers and in sera from 12 CGD patients undergoing bone marrow transplantation. pGSN was also quantified in healthy volunteers challenged with intravenous endotoxin. pGSN concentrations were lower in CGD patients without active infection or systemic inflammation compared with healthy control subjects. In CGD patients undergoing bone marrow transplantation, pGSN concentrations increased significantly following successful transplant. X-linked carriers of CGD had normal pGSN. Despite reduction of pGSN in CGD patients, we did not detect significant changes in pGSN over 24 h following challenge of healthy volunteers with intravenous endotoxin (4 ng/kg) that elicited a febrile response. We describe, for the first time, significantly lower pGSN in clinically stable patients with CGD compared with age- and sex-matched healthy volunteers. Low pGSN levels in CGD patients significantly increased following bone marrow transplantation. X-linked carriers of CGD had normal pGSN. In healthy volunteers challenged with intravenous endotoxin, pGSN is not an acute phase reactant.

血浆凝溶胶蛋白 (pGSN) 是一种细胞内肌动蛋白重塑蛋白的分泌同种型，在人血浆中以高浓度存在。临床研究表明，在多种疾病状态下 pGSN 浓度降低，包括严重创伤、烧伤和败血症。在这些情况下，pGSN 浓度显着降低先于并预测不良临床结果。在这项研究中，我们测量了慢性肉芽肿病 (CGD) 患者的 pGSN，这是一种以反复感染和炎症失调为特征的原发性免疫缺陷。pGSN 使用夹心 ELISA 在来自健康志愿者、临床稳定的 CGD 患者和 X 连锁 CGD 携带者的血浆中以及来自 12 名接受骨髓移植的 ​​CGD 患者的血清中进行量化。还在接受静脉内毒素挑战的健康志愿者中量化 pGSN。与健康对照受试者相比，没有活动性感染或全身炎症的 CGD 患者的 pGSN 浓度较低。在接受骨髓移植的 ​​CGD 患者中，移植成功后 pGSN 浓度显着增加。X 连锁 CGD 携带者的 pGSN 正常。尽管 CGD 患者的 pGSN 减少，但在健康志愿者用静脉内毒素 (4 ng/kg) 激发引起发热反应后的 24 小时内，我们没有检测到 pGSN 的显着变化。我们首次描述了与年龄和性别匹配的健康志愿者相比，临床稳定的 CGD 患者的 pGSN 显着降低。骨髓移植后CGD患者的低pGSN水平显着增加。X 连锁 CGD 携带者的 pGSN 正常。