Next Article in Journal / Special Issue
Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay
Previous Article in Journal
Indifferent or Uninformed? Reflections of Health Professionals on Parental Education and Consent for Expanded Newborn Screening in Israel, 2008–2016
Previous Article in Special Issue
Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden
Article Menu

Export Article

Open AccessReview
Int. J. Neonatal Screen. 2017, 3(2), 13; https://doi.org/10.3390/ijns3020013

Newborn Screening for Severe Combined Immunodeficiency in Israel

1
Pediatric Department A and the Immunology Service, “Edmond and Lily Safra” Children’s Hospital, Jeffrey Modell Foundation Center, “Sackler” School of Medicine, Tel Aviv University, Tel-HaShomer, 52621 Ramat Gan, Israel
2
The National Center for Newborn Screening, Ministry of Health, Tel-HaShomer, 52621 Ramat Gan, Israel
3
Ruth Children Hospital, Rappaport Faculty of Medicine, Technion, 3200003 Haifa, Israel
These authors contributed equally to this article.
*
Authors to whom correspondence should be addressed.
Academic Editor: Lennart Hammarström
Received: 23 April 2017 / Revised: 24 May 2017 / Accepted: 12 June 2017 / Published: 17 June 2017
View Full-Text   |   Download PDF [213 KB, uploaded 17 June 2017]

Abstract

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. View Full-Text
Keywords: newborn screening (NBS); severe combined immunodeficiency (SCID); Israel; ARTEMIS; DNA cross-link repair protein 1c (DCLRE1C); T cell receptor excision circle (TREC) newborn screening (NBS); severe combined immunodeficiency (SCID); Israel; ARTEMIS; DNA cross-link repair protein 1c (DCLRE1C); T cell receptor excision circle (TREC)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
SciFeed

Share & Cite This Article

MDPI and ACS Style

Rechavi, E.; Lev, A.; Saraf-Levy, T.; Etzioni, A.; Almashanu, S.; Somech, R. Newborn Screening for Severe Combined Immunodeficiency in Israel. Int. J. Neonatal Screen. 2017, 3, 13.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top