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Intrauterine detection of DCLRE1C (Artemis) mutation by restriction fragment length polymorphism.

作者信息

Karaselek Mehmet Ali, Kapaklı Hasan, Keleş Sevgi, Güner Şükrü Nail, Çelik Şeyma Çelikbilek, Kurar Ercan, Reisli İsmail

机构信息

Necmettin Erbakan University, Meram Medical Faculty, Department of Pediatric Allergy and Immunology, Konya, Turkey.

Necmettin Erbakan University Meram Medical Faculty, Department of Medical Biology, Konya, Turkey.

出版信息

Pediatr Allergy Immunol. 2019 Sep;30(6):668-671. doi: 10.1111/pai.13056. Epub 2019 Jun 26.

DOI:10.1111/pai.13056
PMID:30947362
Abstract
摘要

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Intrauterine detection of DCLRE1C (Artemis) mutation by restriction fragment length polymorphism.通过限制性片段长度多态性进行宫内DCLRE1C（阿蒂米斯）突变检测。
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Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.天然存在的DCLRE1C突变的功能分析及其与艾美斯缺乏症临床表型的相关性。
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A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.一个新的非编码变异 DCLRE1C 导致剪接失调，并通过产生一种截断的 ARTEMIS 蛋白诱导 SCID，该蛋白无法支持 V(D)J 重组和 DNA 损伤修复。
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Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.与DCLRE1C基因新错义突变相关的迟发性非典型重症联合免疫缺陷（SCID）
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Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.严重联合免疫缺陷症（SCID）：从新突变的检测到胚胎植入前遗传学诊断。
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Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.DCLRE1C 基因低功能突变患者的不典型表型：伴 IgA 和 IgE 缺乏的 IgG 高丙种球蛋白血症。
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