Department of Immunology, Shenzhen Children's Hospital, Shenzhen, China.
Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.
Pediatr Allergy Immunol. 2018 Dec;29(8):863-872. doi: 10.1111/pai.12976.
Primary immunodeficiency disorders (PID) is a group of heterogeneous diseases mainly characterized by severe and recurrent infections and an increased susceptibility to lymphoproliferative, atopic, and autoimmune conditions. The clinical diagnosis should preferably be complemented by a genetic diagnosis. To date, PID-related reports from China seldom attempt to make a genetic test for their patients.
Our study aimed to evaluate demographic data, clinical manifestations, and molecular diagnosis of PID patients from southern China. Moreover, by comparison with previous reports, we provide a picture of the current status of PID in mainland China. A total number of 160 pediatric PID patients (106 males and 54 females) were enrolled, and targeted next-generation sequencing was conducted using 269 PID-related genes and subsequently confirmed by Sanger sequencing and familial segregation analysis.
The autoinflammatory disease group was the most common subcategory of PID (20%), followed by immune dysregulation (17.5%) and combined immunodeficiencies (16.2%). Antibody deficiency disorders were identified in only 11.9% of the cohort. The putative causative gene was identified in 70 patients (43.8%), and an X-linked pattern was found in 45.7% of the genetically diagnosed patients.
The current study provides the first collective study of PID phenotypes and genotypes in south China and provides a strong argument for the diagnostic application of targeted next-generation sequencing panels in patients with suspected PID.
原发性免疫缺陷病（PID）是一组异质性疾病，主要表现为严重和反复感染，以及增加发生淋巴增生性、特应性和自身免疫性疾病的易感性。临床诊断最好辅以基因诊断。迄今为止，中国关于 PID 的报告很少尝试对患者进行基因检测。
我们的研究旨在评估来自中国南方的 PID 患者的人口统计学数据、临床表现和分子诊断。此外，通过与以往报告的比较，我们提供了中国大陆 PID 现状的图片。共纳入 160 名儿科 PID 患者（男 106 例，女 54 例），使用 269 个 PID 相关基因进行靶向下一代测序，随后通过 Sanger 测序和家系分离分析进行确认。
自身炎症性疾病组是 PID 最常见的亚类（20%），其次是免疫失调（17.5%）和联合免疫缺陷（16.2%）。抗体缺陷疾病仅在队列中的 11.9%中被识别。在 70 名患者（43.8%）中确定了假定的致病基因，在基因诊断患者中，X 连锁模式占 45.7%。
本研究首次提供了中国南方 PID 表型和基因型的综合研究，并为疑似 PID 患者靶向下一代测序panel 的诊断应用提供了有力论据。
