Chen Anchoo, Atar Lev, Amos J Simon, Shiran Levy, Amarilla Mandola, Shirly Frizinsky, Ido Somekh, NaserEddin Adeeb, Rabee S A Adwan, Amos Toren, Hana Golan, Bella Bielorai, Daphna Hutt, Etai Adam, Raz Somech
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引用次数: 0
Abstract
Background: 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.
Objective: To explore variable factors including the impact of NBS that are associated with HSCT outcomes and OS, in a multi-ethnic SCID cohort.
Methods: 100 SCID patients diagnosed and treated with HSCT at Sheba Medical Center in Israel between the years 1996 to 2024 were studied.
Results: 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).
Conclusion: 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.
期刊介绍：
The Journal of Allergy and Clinical Immunology is a prestigious publication that features groundbreaking research in the fields of Allergy, Asthma, and Immunology. This influential journal publishes high-impact research papers that explore various topics, including asthma, food allergy, allergic rhinitis, atopic dermatitis, primary immune deficiencies, occupational and environmental allergy, and other allergic and immunologic diseases. The articles not only report on clinical trials and mechanistic studies but also provide insights into novel therapies, underlying mechanisms, and important discoveries that contribute to our understanding of these diseases. By sharing this valuable information, the journal aims to enhance the diagnosis and management of patients in the future.
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