基于CRISPR/ cas的DOCK8免疫缺陷综合征基因编辑策略

IF 4.9 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Frontiers in genome editing Pub Date : 2022-03-17 eCollection Date: 2022-01-01 DOI:10.3389/fgeed.2022.793010
Sujan Ravendran, Sabina Sánchez Hernández, Saskia König, Rasmus O Bak
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引用次数: 0

摘要

DOCK8基因缺陷导致被称为DOCK8免疫缺陷综合征(DIDS)的联合免疫缺陷。DIDS以前属于常染色体隐性高IgE综合征(AR-HIES)的疾病类别,但现在被归类为联合免疫缺陷(CID)。这种遗传性疾病导致早期发病,易患严重的复发性病毒和细菌感染、特应性疾病和恶性肿瘤,导致高发病率和死亡率。这种病理状态是由肌动蛋白聚合和细胞骨架重排受损引起的,这导致免疫细胞迁移、生存和效应功能不正常。由于疾病的严重程度,早期同种异体造血干细胞移植被推荐,即使它与意外不良反应的风险、对相容供体的需求和高费用相关。到目前为止,还没有开发出替代疗法,但这种疾病的单基因隐性特性表明,基因疗法可能会被应用。CRISPR/Cas基因编辑系统的出现预示着精准基因治疗的新时代的到来,临床试验的积极结果已经表明,该工具可能为几种遗传疾病提供明确的治疗方法。在这里,我们讨论了不同的CRISPR/ cas介导的基因疗法在纠正DOCK8基因方面的潜在应用。我们的研究结果鼓励追求基于CRISPR/ cas的基因编辑方法,这可能为DOCK8缺乏症提供更精确、负担得起和低风险的最终治疗选择。
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CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome.

Defects in the DOCK8 gene causes combined immunodeficiency termed DOCK8 immunodeficiency syndrome (DIDS). DIDS previously belonged to the disease category of autosomal recessive hyper IgE syndrome (AR-HIES) but is now classified as a combined immunodeficiency (CID). This genetic disorder induces early onset of susceptibility to severe recurrent viral and bacterial infections, atopic diseases and malignancy resulting in high morbidity and mortality. This pathological state arises from impairment of actin polymerization and cytoskeletal rearrangement, which induces improper immune cell migration-, survival-, and effector functions. Owing to the severity of the disease, early allogenic hematopoietic stem cell transplantation is recommended even though it is associated with risk of unintended adverse effects, the need for compatible donors, and high expenses. So far, no alternative therapies have been developed, but the monogenic recessive nature of the disease suggests that gene therapy may be applied. The advent of the CRISPR/Cas gene editing system heralds a new era of possibilities in precision gene therapy, and positive results from clinical trials have already suggested that the tool may provide definitive cures for several genetic disorders. Here, we discuss the potential application of different CRISPR/Cas-mediated genetic therapies to correct the DOCK8 gene. Our findings encourage the pursuit of CRISPR/Cas-based gene editing approaches, which may constitute more precise, affordable, and low-risk definitive treatment options for DOCK8 deficiency.

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