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Nur durch die Korrektur des Immunsystems \u2013\u00a0in der Regel durch eine h\u00e4matopoetische Stammzelltransplantation (HSZT)\u00a0\u2013 ist eine Heilung m\u00f6glich. Pilotstudien und nationale Programme in den USA und Europa konnten zeigen, dass betroffene Kinder bereits im asymptomatischen Stadium durch das Neugeborenenscreening erkannt werden k\u00f6nnen. Dies erm\u00f6glicht es, Patienten mit SCID noch vor Auftreten schwerer Komplikationen zu behandeln, was den Erfolg der Therapiema\u00dfnahmen wie HSZT erheblich verbessert.<\/jats:p>\n                  <jats:p>Einem Bewertungsverfahren im Gemeinsamen Bundesausschuss (G-BA) folgend wurde 2019 auch in Deutschland ein Neugeborenenscreening auf SCID eingef\u00fchrt. Die ersten Ergebnisse des Screenings (Trockenblutkarten von ca.\u00a02\u00a0Mio. Neugeborenen im Zeitraum August 2019 bis Februar 2022) wurden vor Kurzem ver\u00f6ffentlicht. Neben klassischen SCID-Erkrankungen (Inzidenz 1:54.000) wurden, wie erwartet, auch Patienten mit einer syndromalen Grunderkrankung und T\u2011Zell-Lymphopenie identifiziert. Bei allen Patienten mit klassischem SCID wurde eine kurative Therapie geplant; 21\u00a0von 25\u00a0Patienten waren zum Zeitpunkt der Datenauswertung bereits transplantiert. Nur einer der 21\u00a0transplantierten 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 fr\u00fchzeitig identifiziert und einer kurativen Therapie zugef\u00fchrt.<\/jats:p>","DOI":"10.1007\/s00103-023-03773-6","type":"journal-article","created":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T13:12:10Z","timestamp":1695129130000},"page":"1222-1231","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Neugeborenenscreening auf schwere kombinierte Immundefekte (SCID) in Deutschland","Newborn screening for severe combined immunodeficiencies (SCID) in Germany"],"prefix":"10.1007","volume":"66","author":[{"given":"Sujal","family":"Ghosh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael H.","family":"Albert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"Hauck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manfred","family":"H\u00f6nig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharina","family":"Sch\u00fctz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ansgar","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Speckmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,9,19]]},"reference":[{"key":"3773_CR1","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1016\/s0022-3476(97)70199-9","volume":"130","author":"RH Buckley","year":"1997","unstructured":"Buckley\u00a0RH, Schiff\u00a0RI, Schiff\u00a0SE et\u00a0al (1997) Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 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