Newborn screening for severe T and B cell immunodeficiency in Israel: A pilot study

Raz Somech*, Atar Lev, Amos J. Simon, David Korn, Ben Zion Garty, Ninette Amariglio, Gideon Rechavi, Shlomo Almashanu, Joel Zlotogora, Amos Etzioni

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Background: Enumeration of T cell receptor excision circles (TREC) was recently adopted as a neonatal screening assay for severe combined immunodeficiency (SCID). Enumeration of kappa-deleting recombination excision circle (KREC) copy numbers can be similarly used for early assessment of B cell lymphopenia. Objective: To assess the ability of TREC and KREC counts to identify patients with combined T and B cell immunodeficiency in a pilot study in Israel. Methods: We studied seven children born in Israel during the years 2010-2011 and later diagnosed with SCID, and an additional patient with pure B cell immunodeficiency. TREC and KREC in peripheral blood upon diagnosis and in their neonatal Guthrie cards were analyzed using real-time quantitative polymerase chain reaction, as were Guthrie cards with dried blood spots from healthy newborns and from normal and SCID-like controls. Results: The first features suggestive of SCID presented at age 3.1 ± 2.4 months in all patients. Yet, the diagnosis was made 4.1 ± 2.9 months later. Their TREC were undetectable or significantly low at their clinical diagnosis and in their originally stored Guthrie cards, irrespective of the amount of their circulating T cells. KREC were undetectable in six SCID patients who displayed B cell lymphopenia in addition to T cell lymphopenia. KREC were also undetectable in one patient with pure B cell immunodeficiency. Conclusions: TREC and KREC quantification are useful screening tests for severe T and B cell immunodeficiency. Implementation of these tests is highly important especially in countries such as Israel where a high frequency of consanguinity is known to exist.

Original languageEnglish
Pages (from-to)404-409
Number of pages6
JournalIsrael Medical Association Journal
Issue number8
StatePublished - Aug 2013


  • Guthrie cards
  • Hematopoietic stem cell transplantation (HSCT)
  • Immunodeficiency
  • Kappa-deleting recombination excision circles (KREC)
  • Neonatal screening
  • Severe combined immunodeficiency (SCID)
  • T cell receptor excision circles (TREC)


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