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Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.

作者信息

Sundin Mikael, Uhlin Michael, Gaballa Ahmed, Ramme Kim, Kolios Antonios Ga, Marits Per, Nilsson Jakob

机构信息

The Astrid Lindgren Children's Hospital, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.

Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.

出版信息

Pediatr Allergy Immunol. 2018 Feb;29(1):108-111. doi: 10.1111/pai.12812. Epub 2017 Dec 12.

DOI:10.1111/pai.12812
PMID:28981982
Abstract
摘要

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引用本文的文献

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Genes Immun. 2023 Aug;24(4):207-214. doi: 10.1038/s41435-023-00215-w. Epub 2023 Jul 29.
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High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing.DNA交联修复1C基因高频外显子缺失导致严重联合免疫缺陷，全外显子测序可能会漏检该情况。
Front Genet. 2021 Aug 4;12:677748. doi: 10.3389/fgene.2021.677748. eCollection 2021.
3
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
典型和非典型严重联合免疫缺陷的临床、免疫和分子特征：意大利原发性免疫缺陷网络报告。
Front Immunol. 2019 Aug 13;10:1908. doi: 10.3389/fimmu.2019.01908. eCollection 2019.