Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). - PubMed - NCBI

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). - PubMed - NCBI

Clin Immunol. 2016 Dec 1. pii: S1521-6616(16)30660-X. doi: 10.1016/j.clim.2016.11.016. [Epub ahead of print]

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

Tagliaferri L1, Kunz JB2, Happich M2, Esposito S3, Bruckner T4, Hübschmann D2, Okun JG5, Hoffmann GF5, Schulz A6, Kappe J6, Speckmann C7, Muckenthaler MU2, Kulozik AE8.

Author information

Abstract

The prognosis of children with severe combined immunodeficiency (SCID) depends on a presymptomatic diagnosis and early treatment before complications occur. We established and tested a simplified, practical and economic newborn screening method based on the quantification of T-cell receptor excision circles (TRECs) on dried blood spots (DBSs) through qPCR. Our method was validated by the analysis of 11 positive controls, which all showed an absence of TRECs, thus yielding a sensitivity of 100%. Further, we analyzed 6034 anonymized newborns of whom 6031 (99,95%) showed a normal TREC qPCR with a median of 600 estimated TREC copies/1.6mm punch. The test showed a recall-rate of 0.05%. We present a highly sensitive, specific and time- and cost-effective method of TREC quantification, which is suitable for SCID newborn screening. In comparison to established methods, our test requires only 25% of the input material, doesn't require DNA purification and significantly reduces time and cost requirement.

Copyright © 2016. Published by Elsevier Inc.

KEYWORDS:

Newborn screening; Severe combined immunodeficiency; T-cell receptor excision circles (TRECs)

PMID:

 

27916705

 

DOI:

 

10.1016/j.clim.2016.11.016

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