Newborn screening for severe combined immunodeficiency in Israel

Erez Rechavi, Atar Lev, Talia Saraf-Levy, Amos Etzioni, Shlomo Almashanu, Raz Somech

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations


Newborn screening (NBS) programs for severe combined immunodeficiency (SCID), the most severe type of primary immunodeficiency, are being implemented in more and more countries with every passing year. Since October 2015, SCID screening via T cell receptor excision circle (TREC) quantification in dried blood spots (DBS) has been part of the Israeli NBS program. As an NBS program in its infancy, SCID screening is still evolving, making gathering input from the various programs crucial for compiling an ideal screening algorithm. The relatively high rate of consanguineous marriages in Israel, especially among non-Jews, correlates with an increased incidence of SCID. The Israeli algorithm uses a commercial kit and consists of a two-Guthrie card confirmation system prior to referral to a national immunology center. Preliminary data from the first year and a half of SCID screening in Israel has identified a surprisingly high prevalence of DNA cross-link repair protein 1c (DCLRE1C; ARTEMIS) mutations as the cause of SCID in Israel. The clinically unbiased nature of SCID screening helps unearth mild/leaky SCID phenotypes, resulting in a better understanding of true SCID prevalence and etiology.

Original languageEnglish
Article number13
JournalInternational Journal of Neonatal Screening
Issue number2
StatePublished - Jun 2017
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2017 by the authors.


Acknowledgments: Raz Somech is supported by the Jeffrey Modell Foundation (JMF). The review was performed in partial fulfillment of the requirements of the PhD of Erez Rechavi at the “Sackler” School of Medicine (Tel Aviv University).

FundersFunder number
Jeffrey Modell Foundation


    • DNA cross-link repair protein 1c (DCLRE1C)
    • Israel
    • Newborn screening (NBS)
    • Severe combined immunodeficiency (SCID)
    • T cell receptor excision circle (TREC)


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