原发性免疫缺陷病分子诊断检测的临床实用性：基于案例的综述。
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.
机构信息
Department of Clinical Immunology Auckland City Hospital, Park Rd, Grafton, Auckland New Zealand.
出版信息
Allergy Asthma Clin Immunol. 2010 Jun 8;6(1):12. doi: 10.1186/1710-1492-6-12.
Abstract
Primary immune deficiency disorders (PIDs) are a group of diseases associated with a genetic predisposition 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. Identifying the underlying genetic defect plays a critical role in patient management including diagnosis, family studies, prognostic information, prenatal diagnosis and is useful in defining new diseases. In this review we outline the clinical utility of molecular testing for these disorders using clinical cases referred to Auckland Hospital. It is written from the perspective of a laboratory offering a wide range of tests for a small developed country.
摘要
原发性免疫缺陷病（PID）是一组与遗传易感性相关的疾病，常导致反复感染、恶性肿瘤、自身免疫和过敏。在过去的二十年中，这些疾病中的许多疾病的分子基础已经被确定。大多数疾病是作为单一基因缺陷遗传的。确定潜在的遗传缺陷在患者管理中起着至关重要的作用，包括诊断、家族研究、预后信息、产前诊断，并有助于定义新的疾病。在这篇综述中，我们使用奥克兰医院转诊的临床病例概述了这些疾病的分子检测的临床应用。它是从一个为小发达国家提供广泛检测的实验室的角度来写的。
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