小说ELANE突变与周期性中性质衰竭的临床表现相关
Kassondra M Little1, Joanna L Conant1,2, Katherine A Devitt1,2
1Larner College of Medicine, University of Vermont, Burlington, VT.
Journal of the Association of Genetic Technologists
|December 4, 2023
概括
一名患者的新型ELANE基因缺失导致周期性中性质衰竭 (CyN). 这种情况涉及由于中性粒细胞数量低而导致的反复感染. 患者对花细胞殖民地刺激因子治疗反应良好.
科学领域:
- 遗传学和免疫学 遗传学和免疫学
- 血液学 血液学 血液学
背景情况:
- 先天性中性缺血是一种由中性粒细胞数量低而导致免疫缺陷和婴儿复发性感染的疾病群体.
- 编码中性粒细胞弹性酶的ELANE基因中的病理变异导致严重的先天性中性粒细胞衰竭 (SCN) 或周期性中性粒细胞衰竭 (CyN).
- 循环性中性衰竭 (CyN) 的特点是绝对中性粒细胞数量 (ANC) 的周期性下降,通常每21天发生一次.
研究的目的:
- 描述一个患有新型异性ELANE缺失的患者,呈现周期性中性质衰竭 (CyN) 的临床特征.
- 报告患者对粒细胞殖民地刺激因子 (G-CSF) 的反应,作为一线治疗.
主要方法:
- 基因分析以确定ELANE基因中的突变.
- 对患者绝对中性粒细胞计数 (ANC) 模式的临床评估.
- 对花细胞殖民地刺激因子 (G-CSF) 的治疗反应的评估.
主要成果:
- 鉴定了一种新型异合体ELANE删除 (c.224+(4_19) del16).
- 患者表现出与周期性中性衰竭 (CyN) 相一致的临床症状,包括复发性感染.
- 通过一线颗粒细胞殖民地刺激因子 (G-CSF) 治疗成功治疗中性衰竭.
结论:
- 新的ELANE删除可以导致循环中性质 (CyN).
- 早期诊断和G-CSF治疗对于管理ELANE相关CyN的患者是有效的.
- 这种情况扩大了ELANE相关的中性质衰竭的基因型谱.
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