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Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.
Soomann, Maarja; Prader, Seraina; Pinto Monteiro, Aline; Zeilhofer, Ulrike; Hauri-Hohl, Mathias; Güngör, Tayfun; Pachlopnik Schmid, Jana; Trück, Johannes; Felber, Matthias.
Afiliación
  • Soomann M; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland. maarja.soomann@kispi.uzh.ch.
  • Prader S; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
  • Pinto Monteiro A; Division of Stem Cell Transplantation and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Zeilhofer U; Division of Stem Cell Transplantation and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Hauri-Hohl M; Division of Stem Cell Transplantation and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Güngör T; Division of Stem Cell Transplantation and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Pachlopnik Schmid J; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
  • Trück J; Division of Immunology and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
  • Felber M; Division of Stem Cell Transplantation and the Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
J Clin Immunol ; 44(1): 39, 2024 01 02.
Article en En | MEDLINE | ID: mdl-38165471
ABSTRACT
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been introduced in various countries with the aim of reducing morbidity and mortality. However, studies analyzing outcomes before and after the implementation of NBS programs remain limited. This study sought to compare the outcomes of SCID patients identified through Switzerland's national SCID NBS program, introduced in January 2019, with those of a historical cohort diagnosed between 2007 and 2019. The study included seven patients (32%) identified through NBS, and 15 (68%) born before NBS implementation and diagnosed based on clinical signs. Children in the NBS group were younger at diagnosis (median age 9 days vs 9 months, P = .002) and at hematopoietic stem cell transplantation (HSCT, median age 5 months vs 11 months, P = .003) compared to the clinical group. The NBS group had a lower incidence of infections before HSCT (29% vs 93%, P = .004). Although not statistically significant, the overall survival rate on last follow-up was higher in the NBS group (86% vs 67%, P = .62). Importantly, patients with active infections undergoing HSCT had a significantly lower overall survival probability compared to those without (P = .01). In conclusion, the introduction of NBS in Switzerland has led to earlier and often asymptomatic diagnosis of affected children, enabling timely intervention, infection prevention, and prompt treatment. These factors have contributed to higher survival rates in the NBS group. These findings underscore the critical importance of NBS for SCID, offering potential life-saving benefits through early detection and intervention.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Trasplante de Células Madre Hematopoyéticas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Humans / Infant / Newborn País/Región como asunto: Europa Idioma: En Revista: J Clin Immunol Año: 2024 Tipo del documento: Article País de afiliación: Suiza

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave / Trasplante de Células Madre Hematopoyéticas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Humans / Infant / Newborn País/Región como asunto: Europa Idioma: En Revista: J Clin Immunol Año: 2024 Tipo del documento: Article País de afiliación: Suiza