Genetic immunodeficiencies: both the lumpers and the splitters can claim victory.

ME Conley - Current opinion in immunology, 1992 - europepmc.org
Current opinion in immunology, 1992europepmc.org
Over the last few years, molecular approaches to analysis of genetic immunodeficiencies
have made it clear that different mutations of the same gene may result in very different
clinical presentations. On the other hand, a single clinical syndrome is sometimes due to
mutations in a variety of independent genes. In the future, appropriate treatment, particularly
gene therapy, will depend on a precise genetic diagnosis.
Over the last few years, molecular approaches to analysis of genetic immunodeficiencies have made it clear that different mutations of the same gene may result in very different clinical presentations. On the other hand, a single clinical syndrome is sometimes due to mutations in a variety of independent genes. In the future, appropriate treatment, particularly gene therapy, will depend on a precise genetic diagnosis.
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