Newborn Screening for Severe T and B cell Immunodeficiency in Israel: A Pilot Study

作者：Somech Raz^*; Lev Atar; Simon Amos J; Korn David; Garty Ben Zion; Amariglio Ninette; Rechavi Gideon; Almashanu Shlomo; Zlotogora Joel; Etzioni Amos

来源：Israel Medical Association Journal, 2013, 15(8): 404-409.

• 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)

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. %26lt;br%26gt;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. %26lt;br%26gt;Results: The first features suggestive of SOD presented at age 3.1 +/- 2.4 Months in all patients. Yet, the diagnosis was made 4.1 +/- 72.9 months later. Their TREC were undetectable or significantly low at their clinical diagnosis and in their originally Stored Guthrie card%26apos;s, 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. %26lt;br%26gt;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.

• 出版日期2013-8