The outcome of these procedures is significantly better in patients, in whom early diagnosis and prophylactic measures prevent critical infections and end organ damage. Curative treatment usually consists of hematopoietic stem cell transplantation (HSCT) or gene therapy (GT) in selected genetic entities, but a significant minority have athymia requiring thymus transplantation. Most patients are asymptomatic at birth but develop severe infections and/or immune dysregulation within the first months of life. Severe combined immunodeficiencies (SCID) are rare and life-threatening inborn errors of T-cell immunity. Short-term HSCT outcome was excellent, but NBS and transplant registries will remain essential to evaluate the long-term outcome and to compare results across the rising numbers of TREC-NBS programs across Europe. The newly founded API-CID network facilitates tracking and treatment of identified patients. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54,000, very similar to previous observations from North American and European regions and countries where TREC-NBS was implemented. The German TREC-NBS represents the largest European SCID screening at this point. TREC-NBS missed one patient, who later presented clinically, and one tracking failure occurred after an inconclusive screening result. Eight syndromic patients deceased, all from non-immunological complications. Five patients with syndromic disorders underwent thymus transplantation. Two patients presented with in utero onset OS and died after birth.

Of these, 25/26 (96%) were alive at last follow-up.

Twenty-six patients underwent hematopoietic stem cell transplantation (HSCT), 23/26 within 4 months of life. A genetic diagnosis was established in 88%. ResultsĪmong 1.9 million screened newborns, 88 patients with congenital T-cell lymphocytopenia were identified (25 SCID, 17 leaky SCID/Omenn syndrome (OS)/idiopathic T-cell lymphocytopenia, and 46 syndromic disorders). The Working Group for Pediatric Immunology (API) and German Society for Newborn Screening (DGNS) performed 6-monthly surveys to assess the TREC-NBS process after 2.5 years. MethodsĬhildren with abnormal TREC-NBS were referred to a newly established network of Combined Immunodeficiency (CID) Clinics and Centers. T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.

What is the scid test considered