Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA.
Curr Opin Immunol. 2009 Oct;21(5):466-71. doi: 10.1016/j.coi.2009.07.003. Epub 2009 Aug 3.
In the past, immunodeficiencies were categorized based on clinical and laboratory findings in the affected patient. Now we are more likely to define them based on the specific gene involved. One might expect this shift to increase the precision and clarity of diagnosis but in the last few years it has become increasingly clear that identification of a mutation in a specific gene may not tell the whole story. Some gene defects may reliably result in clinical disease, others may act as susceptibility factors that are more common in patients with immunodeficiency but can also be found in otherwise healthy individuals. Distinguishing between these two types of gene defects is essential for informative genetic counseling.
过去，免疫缺陷是根据受影响患者的临床和实验室发现进行分类的。现在，我们更有可能根据涉及的特定基因来定义它们。人们可能期望这种转变会提高诊断的准确性和清晰度，但在过去几年中，越来越明显的是，确定特定基因中的突变并不能说明全部问题。一些基因缺陷可能可靠地导致临床疾病，而另一些缺陷可能作为易感性因素在免疫缺陷患者中更为常见，但也可能在其他健康个体中发现。区分这两种类型的基因缺陷对于有意义的遗传咨询至关重要。
