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Updated: Jun 24, 2025

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由ELANE突变诱导的SCN和CyN的临床相关性:系统性审查

Yufan Xiao1,2, Nandi Wang1, Xinghao Jin1

  • 1Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.

Frontiers in immunology
|June 6, 2024
PubMed
概括

本系统性综述比较了由ELANE基因突变引起的严重先天性中性缺陷症 (SCN) 和周期性先天性中性缺陷症 (CyN). 它强调了基因型-表型相关性和受影响患者的治疗结果.

关键词:
艾伦·艾伦 (ELANE) 是一个遗传性中性质衰减是一种先天性中性质衰减.循环性先天性中性缺血症.原发性免疫缺陷疾病的疾病.严重的先天性中性质缺血症.

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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