Article
An update on gain-of-function mutations in primary immunodeficiency diseases.
Current opinion in allergy and clinical immunology - 1 Dec 2017
Jhamnani Rekha D, Rosenzweig Sergio D
Abstract excerpt
PURPOSE OF REVIEW: Most primary immunodeficiencies described since 1952 were associated with loss-of-function defects. With the advent and popularization of unbiased next-generation sequencing diagnostic approaches followed by functional validation techniques, many gain-of-function mutations leading to immunodeficiency have also been identified. This review highlights the updates on pathophysiology mechanisms and...
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