Genetics of hypogammaglobulinemia: what do we really know?

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• 作者：Mary Ellen Conley
• 刊名：Current Opinion in Immunology
• 出版年：2009
• 出版时间：October 2009
• 年：2009
• 卷：21
• 期：5
• 页码：466-471
• 全文大小：241 K

文摘

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.