ArticleJournal of clinical immunology2020
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.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.International journal of neonatal screening · 2025Article
- A human NK cell progenitor that originates in the thymus and generates KIRScience advances · 2025Article
- Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature.Research and practice in thrombosis and haemostasis · 2025Article
- A novelFrontiers in genetics · 2025Article
- [Newborn screening for severe combined immunodeficiencies (SCID) in Germany].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).Journal of clinical immunology · 2023Article
- Pediatric intensive care unit admissions network-rationale, framework and method of operation of a nationwide collaborative pediatric intensive care research network in Germany.Frontiers in pediatrics · 2023Article
- Congenital Athymia: Unmet Needs and Practical Guidance.Therapeutics and clinical risk management · 2023Review
- Neonatal Screening for Congenital Metabolic and Endocrine Disorders—Results From Germany for the Years 2006–2018.Deutsches Arzteblatt international · 2021Article
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Authors and funding
31 authors at 16 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSevere 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.
methodsThe 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).
resultsFifty-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.
conclusionsSCID 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.
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