Newborn screening for severe combined immunodeficiency and inborn errors of immunity

Atar Lev, Raz Somech, Ido Somekh

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations

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 languageEnglish
Pages (from-to)692-702
Number of pages11
JournalCurrent Opinion in Pediatrics
Volume35
Issue number6
DOIs
StatePublished - 1 Dec 2023
Externally publishedYes

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.

FundersFunder number
Jeffrey Modell Foundation
Israel Science Foundation3115/19
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

    Fingerprint

    Dive into the research topics of 'Newborn screening for severe combined immunodeficiency and inborn errors of immunity'. Together they form a unique fingerprint.

    Cite this