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.
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。