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Inborn errors of immunity: The missing link in infectious diseases susceptibility.

作者信息

Pham-Huy Anne

机构信息

Division of Infectious Diseases, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

出版信息

J Assoc Med Microbiol Infect Dis Can. 2019 Jun 17;4(2):51-54. doi: 10.3138/jammi.2018.11.12. eCollection 2019 Jun.

DOI:10.3138/jammi.2018.11.12
PMID:36337741
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9602951/
Abstract
摘要

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本文引用的文献

1
Lessons learned from the study of human inborn errors of innate immunity.从人类先天性免疫固有错误研究中吸取的教训。
J Allergy Clin Immunol. 2019 Feb;143(2):507-527. doi: 10.1016/j.jaci.2018.07.013. Epub 2018 Aug 1.
2
Use of Genetic Testing for Primary Immunodeficiency Patients.原发性免疫缺陷病患者的基因检测应用。
J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19.
3
Newborn screening for severe combined immunodeficiency: a primer for clinicians.新生儿重症联合免疫缺陷筛查：临床医生入门指南
CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561.
4
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.国际免疫学联合会：2017 年原发性免疫缺陷疾病委员会关于免疫先天错误的报告。
J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.
5
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.2017 年国际免疫学会联合会原发性免疫缺陷病表型分类
J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.
6
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。
J Allergy Clin Immunol. 2017 May;139(5):1629-1640.e2. doi: 10.1016/j.jaci.2016.11.022. Epub 2017 Jan 27.
7
An Update on the Use of Immunomodulators in Primary Immunodeficiencies.原发性免疫缺陷病中免疫调节剂的应用进展
Clin Rev Allergy Immunol. 2017 Apr;52(2):287-303. doi: 10.1007/s12016-016-8591-2.
8
Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.阿巴西普可缓解一名携带CTLA-4基因新生变异患者的严重自身免疫症状。
J Allergy Clin Immunol. 2016 Jan;137(1):327-330. doi: 10.1016/j.jaci.2015.08.036. Epub 2015 Oct 21.
9
Practice parameter for the diagnosis and management of primary immunodeficiency.原发性免疫缺陷病的诊断和管理实践参数。
J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78. doi: 10.1016/j.jaci.2015.04.049. Epub 2015 Sep 12.
10
Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children.成人与儿童原发性免疫缺陷诊断谱的重要差异。
Expert Rev Clin Immunol. 2015 Feb;11(2):289-302. doi: 10.1586/1744666X.2015.990440. Epub 2015 Jan 5.