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3
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N Engl J Med. 2014 Jul 31;371(5):434-46. doi: 10.1056/NEJMoa1401177.
4
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.建立严重联合免疫缺陷病(SCID)、渗漏性 SCID 和 Omenn 综合征的诊断标准:原发性免疫缺陷治疗联盟的经验。
J Allergy Clin Immunol. 2014 Apr;133(4):1092-8. doi: 10.1016/j.jaci.2013.09.044. Epub 2013 Nov 28.
5
The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.原发性免疫缺陷治疗联合会前瞻性研究 6901 中前五十名严重联合免疫缺陷患儿的自然史:基线特征。
J Clin Immunol. 2013 Oct;33(7):1156-64. doi: 10.1007/s10875-013-9917-y. Epub 2013 Jul 2.
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Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.基于人群的新生儿重症联合免疫缺陷症筛查的实验室技术:赢家是 T 细胞受体切除环。
J Allergy Clin Immunol. 2012 Mar;129(3):607-16. doi: 10.1016/j.jaci.2012.01.032. Epub 2012 Jan 29.
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Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).新生儿严重联合免疫缺陷症筛查;威斯康星经验(2008-2011)。
J Clin Immunol. 2012 Feb;32(1):82-8. doi: 10.1007/s10875-011-9609-4. Epub 2011 Nov 10.
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Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS).严重联合免疫缺陷 (SCID) 与轮状病毒疫苗接种:疫苗不良事件报告系统 (VAERS) 的报告。
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从新生儿筛查面板中添加严重联合免疫缺陷中得到的测序经验。

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.

出版信息

Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S7-S9. doi: 10.1002/hast.875.

DOI:10.1002/hast.875
PMID:30133735
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6886663/
Abstract

Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, which are more diverse than originally believed. Newborn screening for SCID illustrates how adding new disorders to newborn screening panels can be enormously beneficial if evidence-based guidelines are adhered to and if mechanisms are in place to track outcomes and learn along the way. These lessons should guide all additions to newborn screening, including those involving sequencing.

摘要

目前广泛采用的 SCID 新生儿筛查已被证明可有效用于 SCID 的早期诊断和治疗。此外,该筛查提高了我们对 SCID 和相关疾病的认识,这些疾病比最初认为的更为多样化。SCID 的新生儿筛查表明,如果遵循基于证据的指南,并且建立了跟踪结果和学习的机制,那么将新疾病添加到新生儿筛查组中是非常有益的。这些经验教训应该指导所有新生儿筛查的添加,包括涉及测序的添加。