Department of Pediatrics, Medical College of Wisconsin, and Children's Research Institute, Milwaukee, Wisconsin 53226-4874, USA.
JAMA. 2009 Dec 9;302(22):2465-70. doi: 10.1001/jama.2009.1806.
A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality.
To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS cards can detect infants with T-cell lymphopenia in a statewide program.
DESIGN, SETTING, AND PARTICIPANTS: Between January 1 and December 31, 2008, the Wisconsin State Laboratory of Hygiene screened all infants born in Wisconsin for T-cell lymphopenia by quantitating the number of TRECs contained in a 3.2-mm punch (approximately 3 microL of whole blood) of the NBS card. Flow cytometry to enumerate the number of T cells was performed on full-term infants and preterm infants when they reached the equivalent of at least 37 weeks' gestation with TREC values of less than 25/microL. Infants with T-cell lymphopenia were evaluated by a clinical immunologist.
The number of infants with TREC values of less than 25/microL with T-cell lymphopenia confirmed by flow cytometry.
Exactly 71,000 infants were screened by the TREC assay. Seventeen infants aged at least 37 weeks' gestation had at least 1 abnormal TREC assay (TREC values < 25/microL), 11 of whom had samples analyzed by flow cytometry to enumerate T cells. Eight infants demonstrated T-cell lymphopenia. The causes of the T-cell lymphopenia included DiGeorge syndrome (n = 2), idiopathic T-cell lymphopenia (n = 2), extravascular extravasation of lymphocytes (n = 3), and a Rac2 mutation (n = 1). The infant with the Rac2 mutation underwent successful cord blood transplantation.
In a statewide screening program, use of the TREC assay performed on NBS cards was able to identify infants with T-cell lymphopenia.
一种能够鉴定新生婴儿 T 细胞严重缺乏的新生儿血液筛查（NBS）测试可能会降低死亡率。
通过对 NBS 卡上的干血斑 DNA 进行实时定量聚合酶链反应（qPCR）来定量检测 T 细胞受体切除环（TREC），以确定其是否能在全州范围内的项目中检测出 T 细胞淋巴细胞减少症的婴儿。
设计、地点和参与者：2008 年 1 月 1 日至 12 月 31 日，威斯康星州卫生实验室通过定量 NBS 卡上 3.2mm 打孔（约 3μL 全血）中包含的 TREC 数量，筛查所有在威斯康星州出生的婴儿是否存在 T 细胞淋巴细胞减少症。当 TREC 值小于 25μL/μL 的足月和早产儿达到至少 37 周妊娠等效胎龄时，采用流式细胞术对 T 细胞数量进行计数。T 细胞淋巴细胞减少症婴儿由临床免疫学家进行评估。
T 细胞淋巴细胞减少症经流式细胞术证实、TREC 值小于 25μL/μL 的婴儿数量。
通过 TREC 检测法共筛查了 71000 名婴儿。17 名至少 37 周妊娠的婴儿 TREC 检测异常（TREC 值<25μL/μL），其中 11 名婴儿的 T 细胞样本通过流式细胞术进行了分析。8 名婴儿被诊断为 T 细胞淋巴细胞减少症。T 细胞淋巴细胞减少症的病因包括 DiGeorge 综合征（n=2）、特发性 T 细胞淋巴细胞减少症（n=2）、淋巴细胞血管外渗出（n=3）和 Rac2 突变（n=1）。携带 Rac2 突变的婴儿成功进行了脐带血移植。
在全州范围内的筛查项目中，NBS 卡上的 TREC 检测可用于识别 T 细胞淋巴细胞减少症的婴儿。
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