Department of Clinical Immunology, Auckland City Hospital, New Zealand.
Ann N Y Acad Sci. 2011 Nov;1238:53-64. doi: 10.1111/j.1749-6632.2011.06238.x.
Primary immune deficiency disorders (PIDs) are a group of diseases associated with a genetic susceptibility to recurrent infections, malignancy, autoimmunity, and allergy. The molecular basis of many of these disorders has been identified in the last two decades. Most are inherited as single gene defects. As discussed in this paper, identifying the underlying genetic defect plays a critical role in many areas-including patient management, diagnosis, identifying atypical presentations, family studies, providing prognostic information, prenatal diagnosis, and defining new diseases. New Zealand is a geographically isolated, developed country in the South Pacific. We have introduced a dedicated customized genetic testing service for PID patients in New Zealand. This accredited diagnostic program offers rapid turnaround times for genetic tests and minimizes the risk of laboratory errors. Here we review the clinical indications for genetic testing for PIDs based on cases referred to the molecular immunology diagnostic service at Auckland City Hospital.
原发性免疫缺陷病（PID）是一组与复发性感染、恶性肿瘤、自身免疫和过敏相关的遗传性疾病。在过去的二十年中，这些疾病中的许多的分子基础已经被确定。大多数是作为单基因缺陷遗传的。正如本文所讨论的，确定潜在的遗传缺陷在许多领域都起着关键作用，包括患者管理、诊断、识别非典型表现、家族研究、提供预后信息、产前诊断和定义新疾病。新西兰是南太平洋一个地理位置孤立的发达国家。我们在新西兰为 PID 患者引入了专门的定制基因检测服务。这个经过认证的诊断计划为基因检测提供了快速的周转时间，并最大限度地降低了实验室错误的风险。在这里，我们根据奥克兰市医院分子免疫学诊断服务转诊的病例，回顾 PID 基因检测的临床指征。
