Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Front Immunol. 2024 May 22;15:1349919. doi: 10.3389/fimmu.2024.1349919. eCollection 2024.
According to the PRISMA criteria, a systematic review has been conducted to investigate the clinical relevance between patients with severe congenital neutropenia (SCN) and cyclic congenital neutropenia (CyN) induced by ELANE mutations.
We have searched PubMed, EMBASE, Web of Science, Scopus, Cochrane, CNKI, Wanfang Medicine, and VIP for ELANE mutation related literature published from 1997 to 2022. Using Microsoft Excel collect and organize data, SPSS 25, GraphPad Prism 8.0.1, and Omap analyze and plot statistical. Compare the gender, age, geography, mutation sites, infection characteristics, treatment, and other factors of SCN and CyN patients induced by ELANE mutations, with a focus on exploring the relationship between genotype and clinical characteristics, genotype and prognosis.
This study has included a total of 467 patients with SCN and 90 patients with CyN. The onset age of SCN and CyN are both less than 1 year old, and the onset and diagnosis age of SCN are both younger than CyN. The mutation of ELANE gene is mainly missense mutation, and hot spot mutations include S126L, P139L, G214R, c.597+1G>A. The high-frequency mutations with severe outcomes are A57V, L121H, L121P, c.597+1G>A, c.597+1G>T, S126L, C151Y, C151S, G214R, C223X. Respiratory tract, skin and mucosa are the most common infection sites, Staphylococcus aureus, Pseudomonas aeruginosa and Escherichia coli are the most common.
Patients with refractory G-CSF are more likely to develop severe outcomes. The commonly used pre-treatment schemes for transplantation are Bu-Cy-ATG and Flu-Bu-ATG. The prognosis of transplantation is mostly good, but the risk of GVHD is high.
https://www.crd.york.ac.uk/PROSPERO/. PROSPERO, identifier CRD42023434656.
根据 PRISMA 标准，系统评价调查了严重先天性中性粒细胞减少症（SCN）和 ELANE 突变引起的周期性先天性中性粒细胞减少症（CyN）患者之间的临床相关性。
我们检索了 1997 年至 2022 年发表的有关 ELANE 突变的文献，包括 PubMed、EMBASE、Web of Science、Scopus、Cochrane、CNKI、万方医学和 VIP。使用 Microsoft Excel 收集和组织数据，使用 SPSS 25、GraphPad Prism 8.0.1 和 Omap 进行分析和绘制统计图表。比较 ELANE 突变引起的 SCN 和 CyN 患者的性别、年龄、地理位置、突变部位、感染特征、治疗等因素，重点探讨基因型与临床特征、基因型与预后的关系。
本研究共纳入 467 例 SCN 患者和 90 例 CyN 患者。SCN 和 CyN 的发病年龄均小于 1 岁，SCN 的发病和诊断年龄均小于 CyN。ELANE 基因突变主要为错义突变，热点突变包括 S126L、P139L 和 G214R，c.597+1G>A。预后不良的高频突变包括 A57V、L121H、L121P、c.597+1G>A、c.597+1G>T、S126L、C151Y、C151S、G214R、C223X。呼吸道、皮肤和黏膜是最常见的感染部位，金黄色葡萄球菌、铜绿假单胞菌和大肠杆菌是最常见的感染菌。
对 G-CSF 反应差的患者更容易发生严重后果。移植前常用的预处理方案为 Bu-Cy-ATG 和 Flu-Bu-ATG。移植的预后大多良好，但 GVHD 风险较高。
www.crd.york.ac.uk/PROSPERO/。PROSPERO，标识符 CRD42023434656。
