Severe combined immunodeficiency (SCID) is a group of syndromes resulting from genetic defects causing severe deficiency in T cell and B cell function. These conditions are life-threatening and result in susceptibility to serious infections. SCID is often fatal in the first year of life if not detected and properly treated. SCID and related T cell lymphopenias can be detected in newborns by a simple screening test, the T cell receptor excision circle (TREC) assay, using the same dried blood spot samples already collected from newborns to screen for other genetic disorders. The TREC assay facilitates the earliest possible identification of cases of SCID before opportunistic infections, irreversible organ damage, or death, thus allowing for the possibility of curative treatment through hematopoietic stem cell transplant and gene therapy. Infants receiving hematopoietic stem cell transplant in the first few months of life, after being identified through screening, have a high probability of survival (95-100%), along with lower morbidity. The TREC assay has proven to have outstanding specificity and sensitivity to accurately identify almost all infants with SCID (the primary targets) as well as additional infants having other select immunologic abnormalities (secondary targets). The TREC assay is inexpensive and has been effectively integrated into many public health programs. Without timely treatment, SCID is a fatal disease that causes accrual of exorbitant healthcare costs even in just 1 year of life. The cost of care for just one infant with SCID, not diagnosed through newborn screening, could be more than the cost of screening for an entire state or regional population. Continued implementation of TREC screening will undoubtedly enhance early diagnosis, application of treatment, and healthcare cost savings. The Jeffrey Modell Foundation helped initiate newborn screening for SCID in the USA in 2008 and continues its efforts to advocate for SCID screening worldwide. Today, all 50 states and Puerto Rico are screening for SCID and T cell lymphopenia, with 27 million newborns screened to date, and hundreds diagnosed and treated. Additionally, there are at least 20 countries around the world currently conducting screening for SCID at various stages. Newborn screening for SCID and related T cell lymphopenia is cost-effective, and most importantly, it is lifesaving and allows children with SCID the opportunity to live a healthy life.

中文翻译：

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严重合并免疫缺陷症（SCID）和T细胞淋巴细胞减少症新生儿筛查的案例：挽救生命……一次。

严重的联合免疫缺陷病（SCID）是由遗传缺陷引起的一组综合症，这些缺陷导致T细胞和B细胞功能严重缺陷。这些状况危及生命，易患严重感染。如果未发现和正确治疗，SCID在生命的第一年通常会致命。可以通过简单的筛查试验（T细胞受体切除环（TREC）测定法），使用已经从新生儿身上采集的相同的干血斑样品，对新生儿进行SCID和相关的T细胞淋巴细胞减少症的检测，以筛查其他遗传疾病。TREC分析有助于在机会性感染，不可逆器官损伤或死亡之前尽早识别SCID病例，从而使通过造血干细胞移植和基因疗法进行治疗成为可能。通过筛查鉴定出的婴儿，在生命的最初几个月中接受造血干细胞移植的存活率很高（95-100％），而且发病率较低。事实证明，TREC分析具有出色的特异性和敏感性，可以准确识别几乎所有SCID婴儿（主要靶标）以及其他具有其他选择的免疫异常的婴儿（次要靶标）。TREC测定法价格便宜，并且已经有效地集成到许多公共卫生计划中。如果不及时治疗，SCID是一种致命疾病，即使在生命的短短1年之内，也会导致高昂的医疗费用。未通过新生儿筛查诊断的仅一名SCID婴儿的护理费用可能超过整个州或整个地区的筛查费用。继续实施TREC筛查无疑将增强早期诊断，治疗应用和节省医疗费用。Jeffrey Modell基金会于2008年在美国发起了SCID新生儿筛查，并继续努力在全球范围内倡导SCID筛查。如今，所有50个州和波多黎各都在筛查SCID和T细胞淋巴细胞减少症，迄今为止已筛查2700万新生儿，并诊断和治疗了数百例。此外，全球至少有20个国家正在各个阶段进行SCID筛查。新生儿筛查SCID和相关的T细胞淋巴细胞减少症具有成本效益，最重要的是，它可以挽救生命，并使SCID儿童有机会过上健康的生活。应用治疗，节省医疗费用。Jeffrey Modell基金会于2008年在美国发起了SCID新生儿筛查，并继续努力在全球范围内倡导SCID筛查。如今，所有50个州和波多黎各都在筛查SCID和T细胞淋巴细胞减少症，迄今为止已筛查2700万新生儿，并诊断和治疗了数百例。此外，全球至少有20个国家正在各个阶段进行SCID筛查。新生儿筛查SCID和相关的T细胞淋巴细胞减少症具有成本效益，最重要的是，它可以挽救生命，并使SCID儿童有机会过上健康的生活。应用治疗，节省医疗费用。Jeffrey Modell基金会于2008年在美国发起了SCID新生儿筛查，并继续努力在全球范围内倡导SCID筛查。如今，所有50个州和波多黎各都在筛查SCID和T细胞淋巴细胞减少症，迄今为止已筛查2700万新生儿，并诊断和治疗了数百例。此外，全球至少有20个国家正在各个阶段进行SCID筛查。新生儿筛查SCID和相关的T细胞淋巴细胞减少症是符合成本效益的，最重要的是，它可以挽救生命，并使SCID儿童有机会过上健康的生活。Jeffrey Modell基金会于2008年在美国发起了SCID新生儿筛查，并继续努力在全球范围内倡导SCID筛查。如今，所有50个州和波多黎各都在筛查SCID和T细胞淋巴细胞减少症，迄今为止已筛查2700万新生儿，并诊断和治疗了数百例。此外，全球至少有20个国家正在各个阶段进行SCID筛查。新生儿筛查SCID和相关的T细胞淋巴细胞减少症是符合成本效益的，最重要的是，它可以挽救生命，并使SCID儿童有机会过上健康的生活。Jeffrey Modell基金会于2008年在美国发起了SCID新生儿筛查，并继续努力在全球范围内倡导SCID筛查。如今，所有50个州和波多黎各都在筛查SCID和T细胞淋巴细胞减少症，迄今为止已筛查2700万新生儿，并诊断和治疗了数百例。此外，全球至少有20个国家正在各个阶段进行SCID筛查。新生儿筛查SCID和相关的T细胞淋巴细胞减少症是符合成本效益的，最重要的是，它可以挽救生命，并使SCID儿童有机会过上健康的生活。目前，全世界至少有20个国家正在各个阶段进行SCID筛查。新生儿筛查SCID和相关的T细胞淋巴细胞减少症是符合成本效益的，最重要的是，它可以挽救生命，并使SCID儿童有机会过上健康的生活。目前，全世界至少有20个国家正在各个阶段进行SCID筛查。新生儿筛查SCID和相关的T细胞淋巴细胞减少症是符合成本效益的，最重要的是，它可以挽救生命，并使SCID儿童有机会过上健康的生活。