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Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.
Journal of Clinical Immunology ( IF 7.2 ) Pub Date : 2020-05-26 , DOI: 10.1007/s10875-020-00782-x
Sonu Shai 1 , Ruy Perez-Becker 1 , Oliver Andres 2 , Shahrzad Bakhtiar 3 , Ulrich Bauman 4 , Horst von Bernuth 5, 6, 7 , Carl-Friedrich Classen 8 , Gregor Dückers 1 , Sabine M El-Helou 9, 10, 11, 12 , Andrea Gangfuß 13 , Sujal Ghosh 14 , Bodo Grimbacher 9, 10, 15, 16 , Fabian Hauck 17 , Manfred Hoenig 18 , Ralf A Husain 19 , Gerhard Kindle 9, 20 , Florian Kipfmueller 21 , Christian Klemann 4 , Renate Krüger 5 , Elke Lainka 22 , Kai Lehmberg 23 , Florens Lohrmann 24 , Henner Morbach 2 , Nora Naumann-Bartsch 25 , Prasad Thomas Oommen 14 , Ansgar Schulz 18 , Kathrin Seidemann 26 , Carsten Speckmann 9, 27 , Karl-Walter Sykora 28 , Rüdiger von Kries 29 , Tim Niehues 1
Affiliation  

Purpose

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.

Methods

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).

Results

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.

Conclusions

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.



中文翻译:

2014 年至 2015 年德国 SCID 的发病率,一项代表 API 的 ESPED* 调查*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland(德国儿科监测单位)** Arbeitsgemeinschaft Pädiatrische Immunologie。

目的

严重联合免疫缺陷 (SCID) 是一组异质性的致命遗传疾病,其中免疫反应严重受损。如果早期诊断,SCID 可以治愈。我们的目标是在德国引入一般筛查计划之前,确定临床定义的 SCID 病例的发生率,获取报告病例的数据并通过新生儿筛查评估其可能的预测。

方法

德国罕见儿科疾病监测单位 (ESPED) 前瞻性地查询了 2014 年和 2015 年德国所有儿科医院发生的 SCID 病例数。纳入标准是 (1) 机会性或严重感染或与 SCID 相关的临床特征(未能茁壮成长,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) 功能失调的 T 细胞免疫或母体 T 细胞的证据,以及 (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。

结果

最初向 ESPED 报告了 58 名患者,24 名报告可以确认为 SCID,21 名患者在诊断时小于 1 岁。仅向 ESID 报告了 1 例 SCID 病例。德国 1 岁以下儿童 SCID 的估计发病率为每年 1.6/100,000 (1:62,500)。大多数报告的患者有症状,报告结果的死亡率很高 (29% (6/22))。大多数发生的 SCID 病例被认为可能可以通过新生儿筛查检测到。

结论

SCID 是一种罕见的疾病,死亡率很高。新生儿筛查可能会改善大量 SCID 儿童的预后。

更新日期:2020-05-26
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