Abstract
Hematopoietic stem cell transplantation (HSCT) is a curative treatment for infants with severe combined immunodeficiency (SCID). Different factors determine HSCT success and overall survival (OS). Specifically, prompt diagnosis of SCID, preferably through newborn screening (NBS), is critical. To explore variable factors including the impact of NBS that are associated with HSCT outcomes and OS, in a multi-ethnic SCID cohort. 100 SCID patients diagnosed and treated with HSCT at Sheba Medical Center in Israel between the years 1996 to 2024 were studied. We distinguished three groups: Palestinians (62%), Israeli Jews (16%), and Israeli non-Jews (22%). The OS rate was 68%, increasing to 84% when excluding mortality in the first month post-transplantation. Better outcomes were significantly associated with the use of bone marrow (BM) as a stem cell source (P =0.003), the availability of matched related donors (MRD, P =0.045) and use of conditioning (P =0.0006). Due to delayed diagnosis, Palestinian patients had more infections, more events of early post-HSCT death, and inferior OS rates compared to other patients. SCID cases identified by NBS demonstrated superior OS (93%) compared to cases identified by clinical presentation (P =0.04). Improvement in OS was most significant following the implementation of the NBS program for SCID in Israel (P = 0.03). Our study delineates and reinforces specific factors that influence OS after undergoing HSCT for SCID. Importantly, it raises the value of early diagnosis and treatment of affected infants, highlighting the benefit of NBS for SCID in determining the clinical outcome.
Published Version
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