Primary immunodeficiencies (PIDs) are a heterogeneous group of monogenic inborn errors of immunity. The genetic causes of these diseases can be identified using whole exome sequencing (WES). Here, DNA samples from 106 patients with a clinical suspicion of PID were subjected to WES in order to test the diagnostic yield of this test in a highly consanguineous community. A likely genetic diagnosis was achieved in 70% of patients. Several factors were considered to possibly influence the diagnostic rate of WES among our cohort including early age, presence of consanguinity, family history suggestive of PID, the number of family members who underwent WES and the clinical phenotype of the patient. The highest diagnostic rate was in patients with combined immunodeficiency or with a syndrome. Notably, WES findings altered the clinical management in 39% (41/106) of patients in our cohort. Our findings support the use of WES as an important diagnostic tool in patients with suspected PID, especially in highly consanguineous communities.

中文翻译：

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全外显子组测序（WES）方法可用于诊断高度血缘社区的原发性免疫缺陷（PID）。

原发性免疫缺陷（PID）是免疫的单基因先天性错误的异质性组。可以使用全外显子组测序（WES）识别这些疾病的遗传原因。在这里，对来自106位临床上怀疑患有PID的患者的DNA样本进行了WES检测，以在高度血缘的社区中测试该测试的诊断率。70％的患者可能获得了遗传学诊断。考虑到可能影响我们队列中WES诊断率的几个因素，包括年龄，血友病的存在，暗示PID的家族史，经历过WES的家庭成员的数量以及患者的临床表型。诊断最高的是合并免疫缺陷或有综合征的患者。值得注意的是 WES的发现改变了我们队列中39％（41/106）患者的临床管理。我们的研究结果支持将WES用作可疑PID患者的重要诊断工具，尤其是在近血缘社区。