[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene].

Xiaowei Xu、Dandan Yan、Jing Yin、Jie Zheng、Xuetao Wang、Jianbo Shu

2022PubMedImmunology and Microbiology被引 1

摘要

OBJECTIVE: To explore the genetic etiology of a child with severe combined immunodeficiency (SCID). METHODS: Whole exome sequencing (WES) and copy number variation (CNV) analysis were carried out to screen potential variants in the proband. Suspected variants were validated by Sanger sequencing and qPCR. RESULTS: WES showed that the proband harbored compound heterozygous variants of the DCLRE1C gene, namely deletion of exons 1-3 and c.322G>A (p.Val108Met) in exon 5. The exon 1-3 deletion was derived from his father and was known to be pathogenic, while the c.322G>A was derived from his mother and was unreported previously. CONCLUSION: The compound heterozygous variants of the DCLRE1C gene probably underlay the SCID in this child.

引用本文（GB/T 7714）

Xiaowei Xu, Dandan Yan, Jing Yin, 等. [Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene].[J]. PubMed, 2022.

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DOI：https://doi.org/10.3760/cma.j.cn511374-20210317-00236

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