PDF(Pubmed)
Abstract：
BACKGROUND: Severe combined immunodeficiency (SCID) is a life-threatening genetic disorder caused by critical defects of the immune system. Almost all cases are lethal if not treated within the first two years of life. Early diagnosis and intervention are thus essential for improving patient outcomes. In 2013, Ontario became the first Canadian province to perform newborn screening (NBS) for SCID by T cell receptor excision circles (TRECs) analysis, a surrogate marker of thymic function and lymphocyte maturation.
METHODS: This retrospective study reports on nearly 10 years of NBS for SCID at a quaternary referral centre.
RESULTS: From August 2013 to April 2023, our centre\'s densely populated catchment area flagged 162 newborns with low TRECs levels, including 10 cases with SCID. Follow-up revealed other causes of low TRECs, including non-SCID T cell lymphopenia (secondary/reversible or idiopathic causes, and syndromic conditions) and prematurity. A small number of cases with normal repeat TRECs levels and/or T cell subsets were also flagged. Province-wide data from around this period revealed at least 24 diagnosed cases of SCID or Leaky SCID.
CONCLUSIONS: This is the first report of NBS outcomes in a Canadian province describing the causative genetic defects, and the non-SCID causes of a positive NBS for SCID.
METHODS: This retrospective study reports on nearly 10 years of NBS for SCID at a quaternary referral centre.
RESULTS: From August 2013 to April 2023, our centre\'s densely populated catchment area flagged 162 newborns with low TRECs levels, including 10 cases with SCID. Follow-up revealed other causes of low TRECs, including non-SCID T cell lymphopenia (secondary/reversible or idiopathic causes, and syndromic conditions) and prematurity. A small number of cases with normal repeat TRECs levels and/or T cell subsets were also flagged. Province-wide data from around this period revealed at least 24 diagnosed cases of SCID or Leaky SCID.
CONCLUSIONS: This is the first report of NBS outcomes in a Canadian province describing the causative genetic defects, and the non-SCID causes of a positive NBS for SCID.
摘要：
背景：严重联合免疫缺陷（SCID）是一种由免疫系统严重缺陷引起的危及生命的遗传性疾病。如果在生命的头两年内不治疗，几乎所有病例都是致命的。因此，早期诊断和干预对于改善患者预后至关重要。2013年，安大略省成为加拿大第一个通过T细胞受体切除圈（TRECs）分析进行SCID新生儿筛查（NBS）的省份，胸腺功能和淋巴细胞成熟的替代标记。
方法：这项回顾性研究报告了在四元转诊中心进行的近10年的SCIDNBS。
结果：从2013年8月到2023年4月，我们中心人口稠密的集水区标记了162名TREC水平较低的新生儿，包括10例SCID。随访显示其他原因导致TREC低，包括非SCIDT细胞淋巴细胞减少（继发性/可逆性或特发性原因，和综合症）和早产。少数具有正常重复TREC水平和/或T细胞亚群的病例也被标记。在此期间，全省范围的数据显示至少有24例诊断为SCID或泄漏SCID。
结论：这是加拿大一个省的NBS结果的第一份报告，描述了致病的遗传缺陷，以及SCID的NBS为正的非SCID原因。
方法：这项回顾性研究报告了在四元转诊中心进行的近10年的SCIDNBS。
结果：从2013年8月到2023年4月，我们中心人口稠密的集水区标记了162名TREC水平较低的新生儿，包括10例SCID。随访显示其他原因导致TREC低，包括非SCIDT细胞淋巴细胞减少（继发性/可逆性或特发性原因，和综合症）和早产。少数具有正常重复TREC水平和/或T细胞亚群的病例也被标记。在此期间，全省范围的数据显示至少有24例诊断为SCID或泄漏SCID。
结论：这是加拿大一个省的NBS结果的第一份报告，描述了致病的遗传缺陷，以及SCID的NBS为正的非SCID原因。
