Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
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DOI：
10.1001/jama.2014.9132
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发表时间：
2014-08-20
影响因子：
120.7
通讯作者：
Puck, Jennifer M.
中科院分区：
文献类型：
--
作者：
Kwan, Antonia;Abraham, Roshini S.;Puck, Jennifer M.
2008年，威斯康星州开始使用检测T细胞受体切除环（TRECs）的检测方法对新生儿进行严重联合免疫缺陷（SCID）筛查，2010年，SCID被添加到国家推荐的新生儿筛查疾病统一小组中。目前，23个州、哥伦比亚特区和纳瓦霍族进行了全国范围的新生儿SCID筛查。为了提供来自一系列SCID新生儿筛查项目的数据，建立基于人群的SCID和其他T细胞淋巴细胞减少症的发病率，设计流行病学和回顾性观察研究。背景进行SCID新生儿筛查的州的代表被邀请提交他们的SCID筛查算法、测试性能数据以及关于筛查的婴儿和具有非正常结果的病例的去识别的临床和实验室信息。纳入了从2008年1月至2013年7月之前的最近可评价日期的每个参与计划开始时出生的婴儿。来自10个州的代表加上纳瓦霍地区印度卫生服务提供的数据，从3 030 083新生儿筛查TREC test.Main结果和措施与SCID和其他诊断的T细胞淋巴细胞减少症的婴儿进行了分类。确定发病率，并在可能的情况下确定病因。结果筛查发现52例典型的SCID、渗漏性SCID和Omenn综合征，影响1/58000婴儿（95%CI，1/46000 -1/80000）。经诊断和免疫重建后的存活率为87%（45/52），接受移植、酶替代和/或基因治疗的存活率为92%（45/49）。针对SCID和非SCID T细胞淋巴细胞减少症的其他干预措施包括免疫球蛋白输注、预防性抗生素和避免使用活疫苗。在定义和后续的做法的变化影响了非SCID T细胞lymphocytopenia.CONCLUSIONS和RELEVANCE新生儿筛查在11个项目中，在美国确定的58 000名婴儿中的1个SCID的检测率，高生存率。通过相同的筛查检测非SCID T细胞淋巴细胞减少症的有用性仍有待确定。
IMPORTANCE Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100 000 births.OBJECTIVES To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments.DESIGN Epidemiological and retrospective observational study.SETTING Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3 030 083 newborns screened with a TREC test.MAIN OUTCOMES AND MEASURES Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked.RESULTS Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58 000 infants (95% CI, 1/46 000-1/80 000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87% (45/52), 92% (45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia.CONCLUSIONS AND RELEVANCE Newborn screening in 11 programs in the United States identified SCID in 1 in 58 000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.