MINI REVIEW article

Front. Immunol.

Sec. Primary Immunodeficiencies

Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1549768

This article is part of the Research TopicEnhancing Early Detection of Primary Immunodeficiencies (PIDs)View all 8 articles

The clinical and socioeconomic aspects of T-cell Receptor Excision Circle based Newborn Screening for Severe Combined Immunodeficiency in Southeast and East Asia

Provisionally accepted
Noelle  YooNoelle YooSeongjin  KimSeongjin KimJane  KimJane KimJong Gyun  AhnJong Gyun AhnInsoo  KangInsoo KangJunghee  Jenny ShinJunghee Jenny Shin*
  • School of Medicine, Yale University, New Haven, United States

The final, formatted version of the article will be published soon.

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.

Keywords: New born screening, TREC, KREC, SCID, southeast asia, East Asia

Received: 21 Dec 2024; Accepted: 28 Apr 2025.

Copyright: © 2025 Yoo, Kim, Kim, Ahn, Kang and Shin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Junghee Jenny Shin, School of Medicine, Yale University, New Haven, United States

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