PDF(Pubmed)
Abstract：
Molecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients\' long-term prognosis, treatment options, and genetic counseling. Over the past decade, the broader utilization of next-generation sequencing (NGS) techniques in both research and clinical settings has facilitated the evaluation of a significant proportion of patients for gene variants associated with IEI. In addition to its role in diagnosing known gene defects, the application of high-throughput techniques such as targeted, exome, and genome sequencing has led to the identification of novel disease-causing genes. However, the results obtained from these different methods can vary depending on disease phenotypes or patient characteristics. In this study, we conducted whole-exome sequencing (WES) in a sizable cohort of IEI patients, consisting of 303 individuals from 21 different clinical immunology centers in Türkiye. Our analysis resulted in likely genetic diagnoses for 41.1% of the patients (122 out of 297), revealing 52 novel variants and uncovering potential new IEI genes in six patients. The significance of understanding outcomes across various IEI cohorts cannot be overstated, and we believe that our findings will make a valuable contribution to the existing literature and foster collaborative research between clinicians and basic science researchers.
摘要：
先天性免疫错误（IEI）的分子诊断在确定患者的长期预后中起着至关重要的作用，治疗方案,和遗传咨询。在过去的十年里，下一代测序(NGS)技术在研究和临床环境中的广泛使用促进了对相当比例的患者进行与IEI相关的基因变异的评估.除了它在诊断已知基因缺陷中的作用，高通量技术的应用，如针对性的，exome,基因组测序导致了新的致病基因的鉴定。然而,从这些不同方法获得的结果可能因疾病表型或患者特征而异.在这项研究中,我们在相当大的IEI患者队列中进行了全外显子组测序（WES），由来自Türkiye21个不同临床免疫学中心的303名个体组成。我们的分析得出了41.1％的患者（297人中有122人）的可能遗传诊断，在6名患者中揭示52种新变异并发现潜在的新IEI基因。理解各种IEI队列结果的重要性不可低估，我们相信我们的发现将对现有文献做出有价值的贡献，并促进临床医生和基础科学研究人员之间的合作研究。
