Overview of 15-year severe combined immunodeficiency in the Netherlands : towards newborn blood spot screening

Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998-2... Mehr ...

Verfasser: de Pagter, Anne P. J.
Bredius, Robbert G. M.
Kuijpers, Taco W.
Tramper, Jelco
van der Burg, Mirjam
van Montfrans, JM
Driessen, Gertjan J.
Dutch Working Party Immunodeficien
Dokumenttyp: Artikel
Erscheinungsdatum: 2015
Schlagwörter: Severe combined immunodeficiency / Primary immunodeficiency / Infection / Viral / Bacterial / Stem cell transplantation / TRANSPLANTATION
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27220010
Datenquelle: BASE; Originalkatalog
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Link(s) : https://dspace.library.uu.nl/handle/1874/332862