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Opening SCID newborn screening for novel exon genetic variants through whole-exome sequencing in China.

International immunopharmacology - 20 Aug 2024

Yang Xiao, He JianHu, Peng Wei, Zheng Sheng, Ma Ning, Chen YuHan, Shen Jian, Kong XiangYong

Abstract excerpt

BACKGROUND: Severe combined immunodeficiency (SCID) is the most fatal form of inherited primary immunodeficiency disease. Known molecular defect mutations occur in most children with SCID. METHODS: Herein, we report Adenosine Deaminase-SCID (ADA-SCID) using whole-exome sequencing (WES), explore exome mutational landscape and significance for 17 SCID samples, and verify the mutated exon genes using the Gene...

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Identifiers

PMID: 38908084
DOI: 10.1016/j.intimp.2024.112402

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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