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Review
. 2023 Nov;66(11):1222-1231.
doi: 10.1007/s00103-023-03773-6. Epub 2023 Sep 19.

[Newborn screening for severe combined immunodeficiencies (SCID) in Germany]

[Article in German]
Sujal Ghosh  1   2 , Michael H Albert  3 , Fabian Hauck  3 , Manfred Hönig  4 , Catharina Schütz  5 , Ansgar Schulz  4 , Carsten Speckmann  6
Affiliations
Review

[Newborn screening for severe combined immunodeficiencies (SCID) in Germany]

[Article in German]
Sujal Ghosh et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023 Nov.

Abstract
in English, German

Patients with a severe combined immunodeficiency (SCID) harbor genetic mutations disrupting T cell immunity and hence suffer severe, life-threatening infections or manifestations of immune dysregulation within the first months of their life. The only cure is to correct their immune system, usually by means of hematopoietic stem cell transplantation (HSCT). Pilot studies and national programs in the United States and in European countries have shown that patients can be identified at an early asymptomatic stage through newborn screening. This allows treatment before the occurrence of severe complications, which improves the outcome of curative strategies like HSCT.After assessment by the Federal Joint Committee (G-BA), the SCID screening was implemented into newborn screening in Germany in 2019. The first results of the screening (dry blood spot cards from around 2 million newborns between August 2019 and February 2022) were recently published. As expected, in addition to classic SCID diseases (incidence 1:54,000), infants with syndromic disorders and T cell lymphopenia were also identified. All patients with classic SCID were scheduled for curative treatment. Of the 25 patients with classic SCID, 21 were already transplanted at the time of data analysis. Only one of 21 transplanted patients died due to pre-existing infections. A comparison of the recent screening data with historical data suggests that SCID newborn screening has been successfully implemented in Germany. Patients with SCID are routinely identified very early and scheduled for curative therapy.

Patienten mit einem schweren kombinierten Immundefekt (SCID) erkranken aufgrund einer fehlenden bzw. gestörten T‑Zell-Immunität meist innerhalb der ersten Lebensmonate an schweren, oft letal verlaufenden Infektionen oder Zeichen der Immunfehlregulation. Nur durch die Korrektur des Immunsystems – in der Regel durch eine hämatopoetische Stammzelltransplantation (HSZT) – ist eine Heilung möglich. Pilotstudien und nationale Programme in den USA und Europa konnten zeigen, dass betroffene Kinder bereits im asymptomatischen Stadium durch das Neugeborenenscreening erkannt werden können. Dies ermöglicht es, Patienten mit SCID noch vor Auftreten schwerer Komplikationen zu behandeln, was den Erfolg der Therapiemaßnahmen wie HSZT erheblich verbessert.Einem Bewertungsverfahren im Gemeinsamen Bundesausschuss (G-BA) folgend wurde 2019 auch in Deutschland ein Neugeborenenscreening auf SCID eingeführt. Die ersten Ergebnisse des Screenings (Trockenblutkarten von ca. 2 Mio. Neugeborenen im Zeitraum August 2019 bis Februar 2022) wurden vor Kurzem veröffentlicht. Neben klassischen SCID-Erkrankungen (Inzidenz 1:54.000) wurden, wie erwartet, auch Patienten mit einer syndromalen Grunderkrankung und T‑Zell-Lymphopenie identifiziert. Bei allen Patienten mit klassischem SCID wurde eine kurative Therapie geplant; 21 von 25 Patienten waren zum Zeitpunkt der Datenauswertung bereits transplantiert. Nur einer der 21 transplantierten Patienten verstarb an vorbestehenden Infektionen. Ein Vergleich des implementierten Screenings mit historischen Daten zeigt, dass das Screening in Deutschland erfolgreich umgesetzt wurde. Patienten mit SCID werden frühzeitig identifiziert und einer kurativen Therapie zugeführt.

Keywords: Inborn errors of immunity; Newborn screening; SCID; TREC; T cells.

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