O'Gorman Maurice R G
Feinberg School of Medicine, Northwestern University and the Children's Memorial Hospital, Chicago, Illinois, USA.
Curr Opin Pediatr. 2008 Dec;20(6):688-97. doi: 10.1097/MOP.0b013e328316ec16.
The rapid increases in newly recognized primary immunodeficiency diseases (PIDs), including their clinical, genetic and laboratory-associated abnormalities, make staying abreast of the latest developments a challenge. This review provides an overview of current information directly and indirectly related to the laboratory diagnosis of PIDs.
The latest classification and several prevalence studies provide the framework for understanding the breadth, categories and incidence rates of over 120 recognized disease entities. The latter is followed by reviews of new information related to specific PIDs including new tests, new genetic associations and newly discovered laboratory-based abnormalities. The final section presents new PIDs and a discussion of the future potential of array-based technologies in the diagnosis of PIDs.
The information provided in this review will allow a new appreciation of previously underestimated PIDs' prevalence rates and the delay in their diagnosis. Understanding the molecular causes of PIDs will lead to earlier diagnoses and new targets for improved therapeutic intervention. The presentation of new diagnostic tests should encourage other laboratories to assess their potential in their own laboratories. Ultimately, this information will lead to an increase in the understanding of novel laboratory parameters associated with specific PID and should improve the time required to attain an accurate diagnosis.
新发现的原发性免疫缺陷病（PID）迅速增加，包括其临床、遗传和实验室相关异常，紧跟最新进展颇具挑战。本综述概述了与PID实验室诊断直接和间接相关的当前信息。
最新分类及多项患病率研究为理解120多种已确认疾病实体的范围、类别和发病率提供了框架。随后是对与特定PID相关新信息的综述，包括新检测方法、新遗传关联以及新发现的基于实验室的异常情况。最后一部分介绍了新的PID，并讨论了基于阵列技术在PID诊断中的未来潜力。
本综述提供的信息将使人们重新认识到之前被低估的PID患病率及其诊断延迟情况。了解PID的分子病因将有助于早期诊断，并为改进治疗干预提供新靶点。新诊断检测方法的介绍应促使其他实验室评估其在自身实验室中的潜力。最终，这些信息将增进对与特定PID相关新实验室参数的理解，并应缩短获得准确诊断所需的时间。
