In 2010, the New York State (NYS) Newborn Screen (NBS) Program added the T cell receptor excision circle (TREC) assay to screen for severe combined immunodeficiency disorder (SCID). The objective of this study was to perform a retrospective chart review of 199 infants referred to a single institution for abnormal TREC on NYS NBS between 2010 and 2017. Statistical analysis included analysis of variance, logistic regression models, chi-square, and linear mixed models. One hundred ninety-nine infants were found to have a TREC value of fewer than 200 copies/μL on NYS NBS. Infants were stratified as primary immunodeficiency (PID) (n = 54), immunocompetent (n = 133), lost to follow-up (n = 8), or deceased (n = 4). PID included SCID (n = 3), DiGeorge (n = 6), idiopathic lymphopenia (IL) (n = 44), and other syndromes associated with lymphopenia (n = 3). The 3 SCID cases were identified and brought to treatment, although all experienced significant infections. The study population was found to be predominately non-Hispanic, African American, and male. There was a difference in the average TREC values among those with immunocompetence (83 copies/μL), IL (81 copies/μL), and PID (40 copies/μL) (p < 0.05). On follow-up of 40 patients with IL, patients typically did not have severe infections during first few years of life. This study demonstrates that TREC value can be used to stratify infants for further confirmatory testing to exclude PID. Risk factors, such as stressful prenatal/postnatal conditions, prematurity, race, and sex may affect TREC value but cannot explain all causes of lymphopenia. This study may assist providers in risk stratifying the likelihood of PID with an abnormal TREC and determining the extent of the initial work up that is necessary at the time of a newborn's presentation.

中文翻译：

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纽约新生儿筛查严重联合免疫缺陷转诊中心的回顾性分析。

2010 年，纽约州 (NYS) 新生儿筛查 (NBS) 计划增加了 T 细胞受体切除环 (TREC) 检测以筛查严重联合免疫缺陷病 (SCID)。本研究的目的是对 2010 年至 2017 年在纽约州 NBS 上因 TREC 异常转诊至单一机构的 199 名婴儿进行回顾性图表审查。 统计分析包括方差分析、逻辑回归模型、卡方和线性混合模型. 发现 199 名婴儿在 NYS NBS 上的 TREC 值低于 200 拷贝/μL。婴儿被分层为原发性免疫缺陷 (PID) (n = 54)、免疫功能正常 (n = 133)、失访 (n = 8) 或死亡 (n = 4)。PID 包括 SCID (n = 3)、DiGeorge (n = 6)、特发性淋巴细胞减少症 (IL) (n = 44) 和其他与淋巴细胞减少症相关的综合征 (n = 3)。3 例 SCID 病例被确定并接受治疗，但都经历了严重感染。发现研究人群主要是非西班牙裔、非裔美国人和男性。具有免疫活性 (83 拷贝/μL)、IL (81 拷贝/μL) 和 PID (40 拷贝/μL) 的患者的平均 TREC 值存在差异 (p < 0.05)。在对 40 名 IL 患者进行随访时，患者在生命的最初几年通常没有严重感染。本研究表明，TREC 值可用于对婴儿进行分层，以进行进一步的验证性测试以排除 PID。危险因素，如压力的产前/产后状况、早产、种族和性别可能会影响 TREC 值，但不能解释淋巴细胞减少的所有原因。