Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program - PubMed
3 hours ago
- #Inborn errors of immunity
- #TREC-NBS
- #Newborn screening
- TREC-NBS identifies syndromic inborn errors of immunity (IEI) patients, but immunological management remains uncertain.
- A 5-year study in Germany analyzed 77 syndromic patients detected by TREC-NBS, with 22 different gene defects identified in 93.5% of cases.
- Primary thymic deficiency was present in 64% of patients, most commonly due to 22q11.2 deletion syndrome (62%).
- Common clinical features included congenital heart disease (57%), facial/skeletal abnormalities (53%), and neurological symptoms (36%).
- Definitive treatments included 6 thymus transplants and 6 hematopoietic stem cell transplants (HSCT), with 34% of patients receiving prophylactic treatment.
- Recovery of CD3+ T-cell counts was limited, and overall survival was 89% with a median follow-up of 32 months.
- The study highlights the German healthcare system's ability to provide early prophylactic care and timely access to definitive therapies.
- Interdisciplinary collaboration is emphasized for developing evidence-based management guidelines for syndromic IEI patients.