Department of Paediatrics, Helios Klinikum Krefeld, Krefeld, Germany.
Department of Paediatrics, University Hospital Würzburg, Würzburg, Germany.
J Clin Immunol. 2020 Jul;40(5):708-717. doi: 10.1007/s10875-020-00782-x. Epub 2020 May 26.
Severe combined immunodeficiencies (SCID) are a heterogeneous group of fatal genetic disorders, in which the immune response is severely impaired. SCID can be cured if diagnosed early. We aim to determine the incidence of clinically defined SCID cases, acquire data of reported cases and evaluate their possible prediction by newborn screening, before introduction of a general screening program in Germany.
The German Surveillance Unit for rare Paediatric Diseases (ESPED) prospectively queried the number of incident SCID cases in all German paediatric hospitals in 2014 and 2015. Inclusion criteria were (1) opportunistic or severe infections or clinical features associated with SCID (failure to thrive, lacking thymus or lymphatic tissue, dysregulation of the immune system, graft versus host reaction caused by maternal T cells), (2) dysfunctional T cell immunity or proof of maternal T cells and (3) exclusion of a secondary immunodeficiency such as human immunodeficiency virus (HIV) infection. In a capture-recapture analysis, cases were matched with cases reported to the European Society for Immunodeficiencies (ESID).
Fifty-eight patients were initially reported to ESPED, 24 reports could be confirmed as SCID, 21 patients were less than 1 year old at time of diagnosis. One SCID case was reported to ESID only. The estimated incidence of SCID in Germany is 1.6/100,000 (1:62,500) per year in children less than 1 year of age. Most patients reported were symptomatic and mortality in regard to reported outcome was high (29% (6/22)). The majority of incident SCID cases were considered to be probably detectable by newborn screening.
SCID is a rare disease with significant mortality. Newborn screening may give the opportunity to improve the prognosis in a significant number of children with SCID.
严重联合免疫缺陷症（SCID）是一组致命的遗传疾病，其免疫反应严重受损。如果及早诊断，SCID 可以治愈。我们旨在确定临床定义的 SCID 病例的发生率，获取报告病例的数据，并评估在德国普遍筛查计划实施之前，新生儿筛查对其进行预测的可能性。
德国罕见儿科疾病监测单位（ESPED）前瞻性地调查了 2014 年和 2015 年德国所有儿科医院新发病例的 SCID 数量。纳入标准为：（1）机会性或严重感染或与 SCID 相关的临床特征（生长发育不良、缺乏胸腺或淋巴组织、免疫系统失调、由母体 T 细胞引起的移植物抗宿主反应）；（2）T 细胞免疫功能障碍或母体 T 细胞的证据；（3）排除继发性免疫缺陷，如人类免疫缺陷病毒（HIV）感染。在捕获-再捕获分析中，病例与向欧洲免疫缺陷学会（ESID）报告的病例相匹配。
最初向 ESPED 报告了 58 例患者，其中 24 例可确认为 SCID，21 例患者在诊断时不到 1 岁。只有 1 例 SCID 病例向 ESID 报告。德国 SCID 的估计发病率为每年每 10 万 1 岁以下儿童 1.6 例（1:62,500）。报告的大多数患者均有症状，且报告结局的死亡率较高（29%（6/22））。大多数新发病例的 SCID 被认为可能通过新生儿筛查发现。
SCID 是一种死亡率较高的罕见疾病。新生儿筛查可能为大量 SCID 患儿提供改善预后的机会。
