使用新生儿 Guthrie 卡通过 T 细胞受体切除环定量鉴定严重联合免疫缺陷。
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.
机构信息
Department of Pediatrics, National Defense Medical College, Saitama, Japan.
出版信息
J Pediatr. 2009 Dec;155(6):829-33. doi: 10.1016/j.jpeds.2009.05.026. Epub 2009 Jul 22.
OBJECTIVE
To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID).
STUDY DESIGN
Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T cells (n = 3).
RESULTS
TRECs were detectable in all normal neonatal Guthrie cards (n = 326) at the levels of 10(4) to 10(5) copies/microg DNA. In contrast, TRECs were extremely low in all neonatal Guthrie cards (n = 15) and peripheral blood (n = 14) from patients with SCID, including those with maternal T-cell engraftment or leaky T cells with hypomorphic RAG1 mutations or LIG4 deficiency. There were no false-positive or negative results in this study.
CONCLUSION
TRECs quantification can be used as a neonatal mass screening for patients with SCID.
目的
评估 T 细胞受体切除环 (TREC) 定量分析在严重联合免疫缺陷症 (SCID) 新生儿群体筛查中的可行性。
研究设计
采用实时定量 PCR 方法对 471 例健康对照患者和 18 例具有不同遗传异常（IL2RG、JAK3、ADA、LIG4、RAG1）的 SCID 患者的 TRECs 进行定量分析，其中包括母体 T 细胞植入（n = 4）和渗漏 T 细胞（n = 3）患者。
结果
所有正常新生儿 Guthrie 卡（n = 326）中均可检测到 TRECs，水平为 10(4) 到 10(5) 拷贝/μg DNA。相比之下，所有 SCID 新生儿 Guthrie 卡（n = 15）和外周血（n = 14）中的 TRECs 水平极低，包括母体 T 细胞植入或渗漏 T 细胞，以及具有低功能 RAG1 突变或 LIG4 缺陷的 T 细胞。本研究中无假阳性或假阴性结果。
结论
TREC 定量分析可用于 SCID 患者的新生儿群体筛查。
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