PDF(Pubmed)
Abstract：
Primary immunodeficiency disorders comprise a rare group of mostly monogenic disorders caused by inborn errors of immunity. The majority can be identified by either Sanger sequencing or next generation sequencing. Some disorders result from large insertions or deletions leading to copy number variations (CNVs). Sanger sequencing may not identify these mutations. Here we present droplet digital PCR as an alternative cost-effective diagnostic method to identify CNV in these genes. The data from patients with large deletions of NFKB1, SERPING1, and SH2D1A are presented.
摘要：
原发性免疫缺陷疾病包括一组罕见的主要是由先天性免疫错误引起的单基因疾病。大多数可以通过Sanger测序或下一代测序来鉴定。一些病症由导致拷贝数变异(CNV)的大插入或缺失引起。Sanger测序可能无法识别这些突变。在这里，我们提出了液滴数字PCR作为一种替代的经济有效的诊断方法来识别这些基因中的CNV。提供了NFKB1，SERPING1和SH2D1A大缺失患者的数据。
