SCID Screening

Severe Combined Immunodeficiency, or SCID, is a genetic condition where children do not produce functional T-cells and, in some cases, B-cells; both of which are essential for a healthy immune system. Newborns with SCID suffer from a reduced immune response to infections which, without early detection and treatment, can lead to severe complications and is fatal.

Although caused by genetic factors, over 80% of children born with SCID have no known family history of the disease.  As newborn babies are initially partially protected from pathogens by antibodies transferred from their mother during pregnancy, it can take time for SCID to be recognized and diagnosed, increasing the risk for the child contracting a disease that they cannot defend themselves against.  Newborn screening programs for SCID can detect a lack of T-cell production within a few days after birth, identifying children who may have the disease before they fall ill.  This technology allows rapid intervention and effective treatment before the child develops severe infections.  The most common and widely available treatment for SCID is stem cell transplantation, with exciting recent developments in gene therapy offering another option in some cases.  With prompt treatment, the chances of survival are 95-100%.

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5. Blom, M.; Bredius, R.G.M.; Jansen, M.E.; Weijman, G.; Kemper, E.A.; Vermont, C.L.; Hollink, I.H.I.M.; Dik, W.A.; van Montfrans, J.M.; van Gijn, M.E.; Henreit, S.S.; Aerde, K.J.; Koole, W.; Lankester, A.C.; Dekkers, E.H.B.M.; Schielen, P.C.J.I.; de Vries, M.C.; Henneman, L.; van der Burg, M.; on behald of the SONNET-Study Group. Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands. J Clin Immunol (2020).