Abstract
Purpose of reviewSevere combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants.Recent findingsSCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards. This breakthrough has revolutionized our approach to SCID, enabling not only presymptomatic identification and prompt treatments (including hematopoietic stem cell transplantation), but also enhancing our comprehension of the global epidemiology of SCID.SummaryNBS is continuing to evolve with the advent of novel diagnostic technologies and treatments. Following the successful implementation of SCID-NBS programs, a call for the early identification of additional IEIs is the next step, encompassing a broader spectrum of IEIs, facilitating early diagnoses, and preventing morbidity and mortality.
Original language | English |
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Pages (from-to) | 692-702 |
Number of pages | 11 |
Journal | Current Opinion in Pediatrics |
Volume | 35 |
Issue number | 6 |
DOIs | |
State | Published - 1 Dec 2023 |
Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2023 Lippincott Williams and Wilkins. All rights reserved.
Funding
The authors thank the Jeffrey Modell Foundation, Israel Ministry of Health, and the Israeli Science Foundation for their support. R.S. gratefully acknowledges the funding support from the Israeli Science Foundation (ISF) under the Israel Precision Medicine Program (IPMP), grant agreement No. 3115/19 and under Personal Research Grant.
Funders | Funder number |
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Jeffrey Modell Foundation | |
Israel Science Foundation | 3115/19 |
Ministry of Health, State of Israel |
Keywords
- T-cell receptor excision circle
- inborn errors of immunity
- kappa-deleting element recombination circle
- newborn screening
- next-generation sequencing
- severe combined immunodeficiency