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免疫缺陷对 NK 细胞成熟和功能的影响。

The Impact of Immunodeficiency on NK Cell Maturation and Function.

机构信息

Department of Pediatrics, Immunology Allergy and Rheumatology, Baylor College of Medicine, Houston, TX, USA.

Center for Human Immunobiology, William T Shearer Center for Human Immunobiology, Texas Children's Hospital, 1102 Bates Ave, Suite 330, Houston, TX, 77030, USA.

出版信息

Curr Allergy Asthma Rep. 2019 Jan 19;19(1):2. doi: 10.1007/s11882-019-0836-8.

DOI:10.1007/s11882-019-0836-8
PMID:30661124
Abstract

PURPOSE OF REVIEW

Natural killer cells are innate lymphoid cells (ILCs) that play critical roles in human host defense and are especially useful in combating viral pathogens and malignancy.

RECENT FINDINGS

The NK cell deficiency (NKD) is particularly underscored in patients with a congenital immunodeficiency in which NK cell development or function is affected. The classical NK cell deficiency (cNKD) is a result of absent or a profound decrease in the number of circulating NK cells. In contrast, functional NKD (fNKD) is characterized by abnormal NK cell function but with normal number of NK cells. The combined immune deficiencies with significant impact on NK cells are not considered classical or functional NK cell deficiencies. In these disorders, the impairment of NK cells represents an important aspect of the overall immunodeficiency. In turn, this leads to improved insights on the NK cell development and function. Here, we detail the NK cell biology based upon recent natural killer cell defects described in combined immune deficiencies.

摘要

目的综述

自然杀伤细胞是先天淋巴细胞(ILC),在人体宿主防御中发挥着关键作用,尤其擅长对抗病毒病原体和恶性肿瘤。

最近的发现

NK 细胞缺陷(NKD)在先天性免疫缺陷患者中尤为明显,这些患者的 NK 细胞发育或功能受到影响。经典 NK 细胞缺陷(cNKD)是由于循环 NK 细胞数量缺失或明显减少所致。相比之下,功能 NK 细胞缺陷(fNKD)的特征是 NK 细胞功能异常,但 NK 细胞数量正常。对 NK 细胞有重大影响的联合免疫缺陷并不被认为是经典或功能 NK 细胞缺陷。在这些疾病中,NK 细胞的损伤是整体免疫缺陷的一个重要方面。反过来,这也使得人们对 NK 细胞的发育和功能有了更深入的了解。在此,我们根据联合免疫缺陷中描述的最近的自然杀伤细胞缺陷,详细介绍 NK 细胞生物学。

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本文引用的文献

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Advances in site-specific gene editing for primary immune deficiencies.原发性免疫缺陷病位点特异性基因编辑的进展
Curr Opin Allergy Clin Immunol. 2018 Dec;18(6):453-458. doi: 10.1097/ACI.0000000000000483.
2
Primary Immunodeficiencies Unravel the Role of IL-2/CD25/STAT5b in Human Natural Killer Cell Maturation.原发性免疫缺陷揭示了IL-2/CD25/STAT5b在人类自然杀伤细胞成熟中的作用。
Front Immunol. 2018 Jun 22;9:1429. doi: 10.3389/fimmu.2018.01429. eCollection 2018.
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Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
PI3K110δ 基因突变导致自然杀伤细胞功能受损,雷帕霉素治疗可部分恢复。
J Allergy Clin Immunol. 2018 Aug;142(2):605-617.e7. doi: 10.1016/j.jaci.2017.11.042. Epub 2018 Jan 10.
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Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.芦可替尼部分逆转信号转导子和转录激活子 1(STAT1)功能获得性突变患者功能性自然杀伤细胞缺陷。
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Characterization of T and B cell repertoire diversity in patients with RAG deficiency.RAG缺陷患者T和B细胞受体库多样性的特征分析
Sci Immunol. 2016 Dec 16;1(6). doi: 10.1126/sciimmunol.aah6109.
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Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.患有重组激活基因和非同源末端连接基因缺陷患者的自然杀伤细胞中,CD56 NKG2A细胞的频率更高,但脱颗粒增加且穿孔素含量更高。
Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017.
7
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.遗传性GINS1缺陷是生长发育迟缓伴中性粒细胞减少和自然杀伤细胞缺陷的基础。
J Clin Invest. 2017 May 1;127(5):1991-2006. doi: 10.1172/JCI90727. Epub 2017 Apr 17.
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Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in and .通过[具体基因1]和[具体基因2]中的免疫缺陷突变对PI3Kδ调节的构象破坏。
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Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.鲁索替尼可逆转失调的辅助性T细胞反应,并控制由一种新型信号转导及转录激活因子1(STAT1)功能获得性突变引起的自身免疫。
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Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.信号转导子和转录激活子 1(STAT1)功能获得性突变患者自然杀伤细胞功能受损。
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