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Schuetz, C.; Hauck, F.; Albert, M. H.; Hoenig, M.; Borte, S.; Wahn, V.; Schulz, A.; Nennstiel, U. and Speckmann, C. (2019): Neugeborenenscreening auf schwere kombinierte Immundefekte. Wichtigste Fakten für Pädiater. In: Monatsschrift Kinderheilkunde, Vol. 167, No. 11: pp. 1027-1032

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From August 2019 onwards, a nationwide newborn screening (NBS) for severe combined immunodeficiencies (SCID) will be introduced in Germany. A polymerase chain reaction (PCR) analysis for T-cell receptor excision circles (TREC) from dried blood spots will be used to detect SCID and other diseases with low T-cell counts. SCID are a heterogeneous group of congenital diseases with severe T-cell deficiency. Untreated children with SCID usually die from infections or severe autoimmunitywithin the first 2 years of life. In contrast, a diagnosis of SCID before the onset of clinical symptoms allows timely initiation of treatment and cure for most affected children. However, a delayed diagnosis is common and regularly leads to a high disease burden and irreversible organ damage resulting in worse outcomes of curative treatment, e.g. hematopoietic stem cell transplantation (HSCT). With the advent of NBS for SCID, it will thus be possible to provide curative treatment before infants develop severe complications. Importantly, NBS for SCID does not generally exclude primary immunodeficiencies, only the most severe forms of congenital T-cell deficiency. Moreover, approximately 75% of abnormal results come from newborn infants with genetic syndromes (e.g. complete DiGeorge syndrome), or secondary T-cell lymphocytopenia (e.g. lymphangiectasis) or from premature babies with very immature immune systems. These children do not generally need HSCT but benefit from specific therapeutic or prophylacticmeasures. Families whose newborns screen positive should immediately seek advice in a specialized immunological institution (CID clinic or center) for further immunological testing and therapeutic management.

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