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Newborn Screening for Severe Combined Immunodeficiency in Israel

Authors :
Erez Rechavi
Atar Lev
Talia Saraf-Levy
Amos Etzioni
Shlomo Almashanu
Raz Somech
Source :
International Journal of Neonatal Screening, Vol 3, Iss 2, p 13 (2017)
Publication Year :
2017
Publisher :
MDPI AG, 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.

Details

Language :
English
ISSN :
2409515X
Volume :
3
Issue :
2
Database :
Directory of Open Access Journals
Journal :
International Journal of Neonatal Screening
Publication Type :
Academic Journal
Accession number :
edsdoj.b37155dc328845ab90e9fe05063848b9
Document Type :
article
Full Text :
https://doi.org/10.3390/ijns3020013