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Real-World Single-Center Study of Primary Immunodeficiency in Chinese Children: Diagnostic Efficacy and Genomic Landscape Revealed by Whole-Exome Sequencing Combined with Copy Number Variant Analysis

2026-06-24

Abstract excerpt

<title>Abstract</title> <p>Background Inborn Errors of Immunity (IEI) are genetically heterogeneous diseases with nonspecific clinical presentations, often resulting in delayed diagnosis. While whole-exome sequencing (WES) is widely used for diagnosing IEI, its real-world performance in the pediatric Chinese population remains understudied. Methods This study retrospectively analyzed 243 children aged 0 to 15 y...

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Literature Corpus work: 045e5faa-0049-583b-84f1-aae2c5285446
DOI: 10.21203/rs.3.rs-9323897/v1

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