Since the mid-1950's, primary immunodeficiency disorders have been studied intensively as "experiments of nature" to better understand how the immune system works. The recent progress in immunology, genetics, and molecular biology has introduced a new dimension in our understanding of these diseases: scientists and clinicians can now precisely identify many inherited defects on the molecular level and perform mutation analysis, confirm the diagnosis, screen for carriers, and begin to work on gene therapy. This book reviews ...
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Since the mid-1950's, primary immunodeficiency disorders have been studied intensively as "experiments of nature" to better understand how the immune system works. The recent progress in immunology, genetics, and molecular biology has introduced a new dimension in our understanding of these diseases: scientists and clinicians can now precisely identify many inherited defects on the molecular level and perform mutation analysis, confirm the diagnosis, screen for carriers, and begin to work on gene therapy. This book reviews our present understanding of immunology, genetics, and molecular biology and focuses on each of the genetically determined primary immunodeficiency disorders. It contains chapters that deal with clinical and pathological issues, and chapters discussing how to establish the diagnosis of primary immunodeficiency diseases and how to treat them. Leading contributors are drawn from an international group of experts who are all leaders in the field, and each syndrome is addressed from both molecular and clinical points of view to bridge the gap between basic and clinical science.
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