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本文引用的文献

1
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.人类先天性免疫缺陷：国际免疫学联盟专家委员会 2019 年分类更新。
J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17.
2
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.在伊朗，使用TREC/KREC检测法进行新生儿筛查以诊断严重T细胞和B细胞淋巴细胞减少症。
Scand J Immunol. 2018 Aug;88(2):e12699. doi: 10.1111/sji.12699.
3
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.美国11个筛查项目中对重症联合免疫缺陷的新生儿筛查。
JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132.
4
Transplantation outcomes for severe combined immunodeficiency, 2000-2009.2000-2009 年严重联合免疫缺陷的移植结果。
N Engl J Med. 2014 Jul 31;371(5):434-46. doi: 10.1056/NEJMoa1401177.
5
Thymic function-related markers within the thymus and peripheral blood: Are they comparable?胸腺和外周血中与胸腺功能相关的标志物：它们具有可比性吗？
J Clin Immunol. 2006 Jan;26(1):96-100. doi: 10.1007/s10875-006-7519-7.
6
Primary immunodeficiency disorders: antibody deficiency.原发性免疫缺陷病：抗体缺陷
J Allergy Clin Immunol. 2002 Apr;109(4):581-91. doi: 10.1067/mai.2002.122466.
7
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.通过流式细胞术评估结合基因分析鉴定的X连锁无丙种球蛋白血症及其携带者的临床和突变特征
J Allergy Clin Immunol. 2001 Dec;108(6):1012-20. doi: 10.1067/mai.2001.120133.
8
Primary immunodeficiency diseases. Report of a WHO Scientific Group.原发性免疫缺陷病。世界卫生组织科学小组报告。
Clin Exp Immunol. 1995 Jan;99 Suppl 1(Suppl 1):1-24.
9
A uniform deleting element mediates the loss of kappa genes in human B cells.一种统一的删除元件介导人类B细胞中κ基因的缺失。
Nature. 1985;316(6025):260-2. doi: 10.1038/316260a0.

Importance of neonatal screening for primary immunodeficiencies.

作者信息

Rhim Jung Woo

机构信息

Departments of Pediatrics, Daejeon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Daejeon, Korea.

出版信息

Clin Exp Pediatr. 2021 Oct;64(10):519-520. doi: 10.3345/cep.2021.00283. Epub 2021 May 4.

DOI:10.3345/cep.2021.00283
PMID:33957033
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8498010/
Abstract
摘要