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基于T细胞受体切除环的新生儿筛查在东南亚和东亚地区诊断重症联合免疫缺陷的临床及社会经济方面

The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia.

作者信息

Yoo Noelle, Kim Seongjin, Kim Jane, Ahn Jong Gyun, Kang Insoo, Shin Junghee J

机构信息

Section of Rheumatology, Allergy & Immunology, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, United States.

Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

出版信息

Front Immunol. 2025 May 19;16:1549768. doi: 10.3389/fimmu.2025.1549768. eCollection 2025.

DOI:10.3389/fimmu.2025.1549768
PMID:40458401
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12127307/
Abstract

Severe Combined Immunodeficiency (SCID) is a widely underdiagnosed congenital disease that is fatal by 2-years old if left untreated. Most cases of SCID are diagnosed from the prompting of family history while other cases are sporadic and have no indicators for diagnosis besides the onset of debilitating infections. T-cell Receptor Excision Circle Newborn Screening (TREC NBS) offers an accessible way of flagging for SCID and other T-cell lymphopenia; however, the test implementation rate is low, particularly in Asian countries. This review of the literature will explore the significance of TREC NBS for diagnosing SCID with a focus on the potential impact of widespread implementation on infant healthcare in Southeast and East Asian countries including South Korea, Japan, China, Mongolia, Taiwan, Malaysia, Singapore, and Thailand.

摘要

重症联合免疫缺陷病(SCID)是一种普遍未被充分诊断的先天性疾病,如果不进行治疗,患儿会在2岁前死亡。大多数SCID病例是因家族史提示而被诊断出来的,而其他病例则是散发性的,除了出现使人衰弱的感染外,没有其他诊断指标。新生儿T细胞受体切除环筛查(TREC NBS)为筛查SCID和其他T细胞淋巴细胞减少症提供了一种可行的方法;然而,该检测的实施率很低,尤其是在亚洲国家。这篇文献综述将探讨TREC NBS对诊断SCID的意义,重点关注在韩国、日本、中国、蒙古、台湾地区、马来西亚、新加坡和泰国等东南亚和东亚国家广泛实施该检测对婴儿医疗保健的潜在影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4d5/12127307/db02e22a8a83/fimmu-16-1549768-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4d5/12127307/db02e22a8a83/fimmu-16-1549768-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c4d5/12127307/db02e22a8a83/fimmu-16-1549768-g001.jpg

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Cost Eff Resour Alloc. 2025 Feb 19;23(1):3. doi: 10.1186/s12962-025-00608-w.
2
Newborn screening for severe combined immunodeficiency in Malaysia: current status, challenges and progress.马来西亚新生儿严重联合免疫缺陷症筛查:现状、挑战和进展。
Front Immunol. 2024 Oct 2;15:1456769. doi: 10.3389/fimmu.2024.1456769. eCollection 2024.
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Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia.
在发展中国家实施 SCID 新生儿筛查的探索之路:马来西亚的可行性研究及推进策略。
Front Immunol. 2024 Jun 25;15:1400247. doi: 10.3389/fimmu.2024.1400247. eCollection 2024.
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Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).《2024年全球新生儿血斑筛查现状:2020 - 2023年近期活动综合回顾》
Int J Neonatal Screen. 2024 May 23;10(2):38. doi: 10.3390/ijns10020038.
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