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Genetic diagnosis of inborn errors of immunity using clinical exome sequencing

31 May 2023

Abstract excerpt

Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which defects in the immune system lead to an increased susceptibility to infections and other complications. Accurate, prompt diagnosis of IEI is crucial for treatment plan and prognostication. In this study, clinical utility of clinical exome sequencing (CES) for diagnosis of IEI was evaluated. For 37 Korean patients with...

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PMID: 37325673
DOI: 10.3389/fimmu.2023.1178582

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