Incidence of severe combined immunodeficiency through newborn screening in a Chinese population
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population
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DOI：
10.1016/j.jfma.2012.10.020
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发表时间：
2015-01-01
影响因子：
3.2
通讯作者：
Hwu, Wuh-Liang
中科院分区：
文献类型：
--
作者：
Chien, Yin-Hsiu;Chian, Shu-Chuan;Hwu, Wuh-Liang
背景/目的：为了了解严重联合免疫缺陷（SCID）在中国人群中的真实发病率，我们在台湾进行并实施了SCID新生儿筛查。2010年5月1日至2011年12月31日期间，国立台湾大学新生儿筛检中心借由测量T细胞受体切除环（TRECs）的拷贝数，筛检所有新生儿的T细胞淋巴细胞减少症。结果：在19个月的时间内，共有106，391名新生儿使用TREC检测进行了筛查。五名新生儿立即被转诊进行确认性试验，包括两名SCID患者和两名持续性T细胞淋巴细胞减少症患者;第三名SCID患者在研究期后2个月被发现。所有三个SCID病例在2 - 5个月大时接受了干细胞移植。我们还发现了5例22q11.2微缺失综合征。在此期间，两个SCID患者之间的未筛选的新生儿被报道，他们在3个月和4个月的年龄死亡，分别。结论：新生儿筛查，以衡量TREC拷贝数成功地确定新生儿T细胞淋巴细胞减少症，22q11.2微缺失综合征，和其他高危条件。总的来说，在表面健康的新生儿中，T细胞淋巴细胞减少症的发病率超过1/11，821，需要进一步关注他们的免疫功能。版权所有（C）2012，爱思唯尔台湾有限公司及台湾医学会. All rights reserved.
Background/Purpose: In order to know the true incidence of severe combined immunodeficiency (SCID) in a Chinese population, we conducted and implemented SCID newborn screening in Taiwan.Methods: Between May 1, 2010 and December 31, 2011, the National Taiwan University Hospital Newborn Screening Center screened all newborns for T-cell lymphopenia by measuring the copy number of T-cell receptor excision circles (TRECs) and RNase P. Newborns with low TREC values were subjected to complete blood cell counts and flow cytometry.Results: A total of 106,391 newborns were screened using the TREC assay over a period of 19 months. Five newborns were immediately referred for confirmatory tests, including two SCID patients and two patients with persistent T-cell lymphopenia; a third SCID patient was found 2 months after the study period. All three SCID cases received stem cell transplantation at the age of 2-5 months. We also identified five cases of 22q11.2 microdeletion syndrome. During this period, two SCID patients from among the unscreened newborns were reported, and they died at ages 3 months and 4 months, respectively.Conclusion: Newborn screening to measure the number of TREC copies successfully identifies newborns with T-cell lymphopenia, 22q11.2 microdeletion syndrome, and other high-risk conditions. Taken together, the incidence of T-cell lymphopenia in apparently healthy newborns is more than 1 in 11,821, and further attention to their immune functions is warranted. Copyright (C) 2012, Elsevier Taiwan LLC & Formosan Medical Association. All rights reserved.