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2020 年美国严重联合免疫缺陷新生儿筛查全景：筛查方法和目标、沟通途径以及长期随访实践的综述。

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.

机构信息

Newborn Screening and Genetics Department, Association of Public Health Laboratories, Silver Spring, MD, United States.

Immune Deficiency Foundation, Towson, MD, United States.

出版信息

Front Immunol. 2020 Oct 28;11:577853. doi: 10.3389/fimmu.2020.577853. eCollection 2020.

DOI:10.3389/fimmu.2020.577853
PMID:33193375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7655545/
Abstract

Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal screening for SCID. The Association of Public Health Laboratories (APHL), along with the Immune Deficiency Foundation (IDF), surveyed public health NBS system laboratory and follow-up coordinators regarding their NBS program's screening methodologies and targets, protocols for stakeholder notifications, and long-term follow-up practices. This report explores the variation that exists across NBS practices, revealing needs for efficiencies and educational resources across the NBS system to ensure the best outcomes for newborns.

摘要

严重联合免疫缺陷病（SCID）是免疫系统中 T 细胞发育障碍，可以在出生时检测到。截至 2018 年 12 月，美国和相关地区的所有 53 个新生儿筛查（NBS）计划都提供 SCID 的普遍筛查。公共卫生实验室协会（APHL）与免疫缺陷基金会（IDF）一起，对公共卫生 NBS 系统实验室和后续协调员进行了调查，内容涉及他们的 NBS 计划的筛查方法和目标、利益相关者通知的协议，以及长期的随访实践。本报告探讨了 NBS 实践中存在的差异，揭示了 NBS 系统内提高效率和教育资源的需求，以确保为新生儿提供最佳结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2700/7655545/d341b2f2a67d/fimmu-11-577853-g006.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2700/7655545/494250cce3a9/fimmu-11-577853-g005.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2700/7655545/b461d397c27f/fimmu-11-577853-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2700/7655545/54b12431cc19/fimmu-11-577853-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2700/7655545/0256d35653bf/fimmu-11-577853-g003.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2700/7655545/d341b2f2a67d/fimmu-11-577853-g006.jpg

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2
Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening.通过新生儿筛查诊断出患有 SCID 的婴儿的家庭的信息和情感支持需求。
Front Immunol. 2020 May 6;11:885. doi: 10.3389/fimmu.2020.00885. eCollection 2020.
3
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
我们的新生儿筛查工作进展顺利吗？新生儿血斑筛查（NBS）基础设施与程序质量要求的文献综述。
Int J Neonatal Screen. 2023 Jun 22;9(3):35. doi: 10.3390/ijns9030035.
4
Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen.新生儿筛查中发现的非 SCID T 细胞减少症婴儿的自然史。
Clin Immunol. 2022 Dec;245:109182. doi: 10.1016/j.clim.2022.109182. Epub 2022 Nov 8.
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A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.一个新的非编码变异 DCLRE1C 导致剪接失调，并通过产生一种截断的 ARTEMIS 蛋白诱导 SCID，该蛋白无法支持 V(D)J 重组和 DNA 损伤修复。
Front Immunol. 2021 Jun 17;12:674226. doi: 10.3389/fimmu.2021.674226. eCollection 2021.
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