Newborn screening for PIDs using both TREC and KREC identifies late occurrence of B cells
Copyright policy )Newborn screening for PIDs using both TREC and KREC identifies late occurrence of B cells
Tuscany is the first region in Italy to have implemented a neonatal screening for congenital immunodeficiencies using both tandem mass spectrometry for early and late-onset adenosine deaminase and purine-nucleoside phosphorylase deficiency (1) and multiplex Real-Time PCR for TREC and KREC quantification on Dried Blood Spots (DBS) (2). The screening program with TREC and KREC started on December 2013 and, basing on the last data update of March 2017, it has screened a total of 18981 newborns in these first 3 years. We have had no cases of low or diminished TRECs but 5 cases of low/absent KRECs. This article is protected by copyright. All rights reserved.
- University of Florence Italy
- Meyer Children's Hospital Italy
B-Lymphocytes; Biomarkers; Dried Blood Spot Testing; Humans; Immunologic Deficiency Syndromes; Infant, Newborn; Male; Multiplex Polymerase Chain Reaction; Neonatal Screening; Real-Time Polymerase Chain Reaction
B-Lymphocytes; Biomarkers; Dried Blood Spot Testing; Humans; Immunologic Deficiency Syndromes; Infant, Newborn; Male; Multiplex Polymerase Chain Reaction; Neonatal Screening; Real-Time Polymerase Chain Reaction
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