The most profound of primary immunodeficiencies, severe combined immunodeficiency (SCID), presents in infancy. Infants appear healthy at birth, but they are unable to clear pathogens, particularly viruses, and present with recurrent infection, progressive pnueumonitis and failure to thrive due to enteric viral infection, often associated with persistent vaccine-strain rotavirus. The administration of live vaccines is contraindicated in these infants, but most who are eligible receive bacillus Calmette–Guérin vaccination and the live rotavirus vaccine before the diagnosis of SCID is made, making treatment more complicated. Newborn infants with SCID can be screened using the newborn bloodspot to measure T lymphocyte receptor excision circles (TRECs), episomal DNA formed during T lymphocyte receptor development and very low or absent in SCID. Introduction of this programme in the United Kingdom will require the neonatal BCG vaccination programme to be altered, with vaccination at 28 days, once the SCID screening result is known. Although SCID newborn screening has been successfully introduced in other countries, the change in neonatal BCG vaccination requires the introduction of newborn screening to be carefully introduced. An evaluation of impact of screening on SCID diagnosis, treatment and outcomes, together with an evaluation of the technology used to detect TRECs, and the impact of screening and changes to the BCG programme on families will commence in six screening regions in England in September 2021 for 2 years – should the evaluation prove positive, it is likely that screening for this fatal disease will be introduced across the United Kingdom.

中文翻译：

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新生儿重症联合免疫缺陷筛查——即将来到您附近的地区

最严重的原发性免疫缺陷，即严重联合免疫缺陷 (SCID)，出现在婴儿期。婴儿出生时看起来很健康，但他们无法清除病原体，尤其是病毒，并出现反复感染、进行性肺炎和因肠道病毒感染而无法茁壮成长，这通常与持续性疫苗株轮状病毒有关。这些婴儿禁止接种活疫苗，但大多数符合条件的婴儿在确诊 SCID 之前接种了卡介苗疫苗和轮状病毒活疫苗，这使治疗更加复杂。可以使用新生儿血斑筛查患有 SCID 的新生儿，以测量 T 淋巴细胞受体切除环 (TRECs)、在 T 淋巴细胞受体发育过程中形成的游离 DNA 以及在 SCID 中非常低或不存在。该计划在英国的引入将需要改变新生儿卡介苗疫苗接种计划，在 28 天接种疫苗，一旦知道 SCID 筛查结果。虽然SCID新生儿筛查已在其他国家成功引入，但新生儿卡介苗疫苗接种的变化需要谨慎引入新生儿筛查。将于 2021 年 9 月在英格兰的六个筛查地区开始评估筛查对 SCID 诊断、治疗和结果的影响，以及对用于检测 TREC 的技术的评估，以及筛查和 BCG 计划变更对家庭的影响为期 2 年——如果评估结果呈阳性，英国很可能会在整个英国引入对这种致命疾病的筛查。