Yoo Noelle, Kim Seongjin, Kim Jane, Ahn Jong Gyun, Kang Insoo, Shin Junghee J
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.
Front Immunol. 2025 May 19;16:1549768. doi: 10.3389/fimmu.2025.1549768. eCollection 2025.
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.
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。