Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards
Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards
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DOI：
10.1016/j.jpeds.2009.05.026
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发表时间：
2009-12-01
影响因子：
5.1
通讯作者：
Nonoyama, Shigeaki
中科院分区：
文献类型：
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作者：
Morinishi, Yoichi;Imai, Kohsuke;Nonoyama, Shigeaki
目的探讨t细胞受体切除环（TRECs）定量筛查新生儿重症联合免疫缺陷（SCID）的可行性。采用Real-time PCR对471例健康对照患者和18例不同基因异常（IL2RG、JAK3、ADA、LIG4、RAG1）的SCID患者的trec进行定量分析，其中包括母体T细胞移植患者（n = 4）和T细胞漏出患者（n = 3）。结果所有正常新生儿（n = 326）均可检测到trec，水平为10(4)~ 10(5)拷贝/mg DNA。相比之下，所有SCID患者的新生儿Guthrie卡片（n = 15）和外周血（n = 14）中的trec极低，包括那些母体T细胞植入或漏性T细胞具有半形RAG1突变或LIG4缺乏的患者。本研究无假阳性或阴性结果。结论TRECs定量可作为新生儿SCID的筛查指标。
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/mg 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.