Newborn screening for severe combined immune deficiency (SCID) is the first inborn error of immunity (IEI) to be detected through population screening. It also represents the first newborn screening test to utilize molecular testing on DNA from newborn dried blood spots. Newborn screening for SCID has provided opportunities to measure the population prevalence of this disorder and evaluate the effect of early interventions on the overall outcomes in affected infants. The success of SCID newborn screening has increased interest in developing and implementing molecular testing for other clinically significant inborn errors of immunity. This methodology has been adapted to screen for another monogenic inborn defect, spinal muscle atrophy. Advances in the clinical care and new therapeutics for many inborn errors of immunity support the need for early diagnosis and prompt institution of therapies to reduce morbidity and mortality. Early diagnosis may also improve the quality of life for affected patients. This article provides an overview of newborn screening for SCID, recommended steps for follow-up testing and early intervention as well as long-term follow-up. Numerous challenges remain, including the development of clinical consensus regarding confirmatory and diagnostic testing, early interventions, and best practices for immune reconstitution in affected infants.

针对严重联合免疫缺陷 (SCID) 的新生儿筛查是通过人群筛查发现的第一个先天性免疫缺陷 (IEI)。它还代表了第一个对新生儿干血斑点的 DNA 进行分子检测的新生儿筛查测试。新生儿 SCID 筛查为衡量这种疾​​病的人群患病率和评估早期干预对受影响婴儿的总体结果的影响提供了机会。SCID 新生儿筛查的成功增加了人们对开发和实施其他具有临床意义的先天性免疫错误的分子检测的兴趣。这种方法已被用于筛选另一种单基因先天性缺陷，即脊髓性肌肉萎缩症。针对许多先天性免疫错误的临床护理和新疗法的进步支持早期诊断和及时制定治疗以降低发病率和死亡率的必要性。早期诊断还可以改善受影响患者的生活质量。本文概述了新生儿 SCID 筛查、后续检测和早期干预以及长期随访的推荐步骤。许多挑战仍然存在，包括就确诊和诊断测试、早期干预以及受影响婴儿免疫重建的最佳实践达成临床共识。后续测试和早期干预以及长期随访的推荐步骤。许多挑战仍然存在，包括就确诊和诊断测试、早期干预以及受影响婴儿免疫重建的最佳实践达成临床共识。后续测试和早期干预以及长期随访的推荐步骤。许多挑战仍然存在，包括就确诊和诊断测试、早期干预以及受影响婴儿免疫重建的最佳实践达成临床共识。