Jeffrey Modell Foundation, 780 Third Avenue, 47th Floor, New York City, NY, 10017, USA.
Immunol Res. 2020 Feb;68(1):48-53. doi: 10.1007/s12026-020-09117-9.
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.
严重联合免疫缺陷症（SCID）是一组由遗传缺陷引起的综合征，导致 T 细胞和 B 细胞功能严重缺乏。这些病症具有生命威胁性，容易导致严重感染。如果未能发现并进行适当治疗，SCID 通常会在出生后的第一年致命。通过一种简单的筛查试验，即 T 细胞受体切除环（TREC）检测，可以在新生儿中检测到 SCID 和相关的 T 细胞淋巴细胞减少症，该检测利用已经从新生儿采集的相同干血斑样本进行，以筛查其他遗传疾病。TREC 检测有助于在机会性感染、不可逆器官损伤或死亡之前，尽早发现 SCID 病例，从而通过造血干细胞移植和基因治疗实现治愈的可能性。通过筛查发现后，在生命的头几个月内接受造血干细胞移植的婴儿，有很高的生存概率（95-100%），同时发病率较低。TREC 检测已被证明具有出色的特异性和灵敏度，可以准确识别几乎所有患有 SCID 的婴儿（主要目标）以及其他具有特定免疫异常的婴儿（次要目标）。TREC 检测成本低廉，已有效地纳入许多公共卫生计划。如果不及时治疗，SCID 是一种致命疾病，即使在生命的 1 年内也会导致巨额医疗费用的累积。未通过新生儿筛查发现的一名 SCID 婴儿的治疗费用可能超过整个州或地区人口的筛查费用。继续实施 TREC 筛查无疑将提高早期诊断、治疗应用和医疗保健成本节约。杰弗里·莫德尔基金会（Jeffrey Modell Foundation）于 2008 年帮助在美国启动了 SCID 的新生儿筛查，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，迄今为止已经筛查了 2700 万新生儿，确诊和治疗了数百名婴儿。此外，全球至少有 20 个国家目前正在不同阶段进行 SCID 筛查。SCID 和相关 T 细胞淋巴细胞减少症的新生儿筛查具有成本效益，最重要的是，它可以挽救生命，使 SCID 儿童有机会过上健康的生活。
