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Hauck, F.; Albert, M. H.; Ghosh, S.; Hoenig, M.; Nennstiel, U.; Schuetz, C.; Gramer, G.; Schulz, A. and Speckmann, C. (2022): Neugeborenenscreening auf schweren kombinierten Immundefekt. In: Monatsschrift Kinderheilkunde, Vol. 170, No. 4: pp. 328-334

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A nationwide newborn screening (NBS) for severe combined immunodeficiency (SCID) has been carried out since August 2019 in Germany. SCID NBS is performed applying a quantitative real-time polymerase chain reaction (RT-qPCR) analysis for T-cell receptor excision circles (TREC) from the same dried blood spot used for the other NBS tests. SCID are a heterogeneous group of congenital immune defects with severe T-cell deficiency. Untreated children with SCID usually die from infections or severe autoimmunity within the first 2 years of life. In contrast, a diagnosis of SCID before the onset of clinical symptoms enables a timely initiation of treatment and cure for most affected children;however, a delayed diagnosis in symptomatic patients leads to a high disease burden and irreversible organ damage resulting in a poor chance of success of curative treatment, mostly by stem cell transplantation (SCT). The SCID NBS enables affected children to be detected even in the first days of life and the chances of treatment are greatly improved;however, the NBS for SCID does not generally exclude all variants of inborn errors of immunity but only the most severe forms of congenital T-cell deficiency. Moreover, approximately 75% of tested newborns with T-cell deficiency and with conspicuous results do not have an SCID but a genetic syndrome (e.g. complete DiGeorge syndrome), a secondary T-cell deficiency (e.g. lymphangiectasia) or are premature babies with a very immature immune system. These children mostly do not need SCT but also benefit from specific prophylactic and/or therapeutic measures. Newborns testing positive in SCID NBS should immediately be referred to a specialized immunological facility (CID clinic or CID center) so that further immunological diagnostics and if necessary, treatment can be initiated.

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