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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

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

Abstract excerpt

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...

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Identifiers

PMID: 35810434
DOI: 10.3760/cma.j.cn511374-20210317-00236

Genes

DCLRE1C

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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