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- Title
NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.
- Authors
Kanegae, Marilia Pyles P.; Akune Barreiros, Lucila; Lira Sousa, Jusley; Brito, Marco Antônio S.; de Oliveira Junior, Edgar Borges; Pereira Soares, Lara; Mazzucchelli, Juliana Themudo L.; Quiorato Fernandes, Débora; Marchezi Hadachi, Sonia; Maia Holanda, Silvia; Guimarães, Flavia Alice T. M.; Boacnin, Maura Aparecida P. V. V.; Pereira, Marley Aparecida L.; Bueno, Joaquina Maria C.; Sevciovic Grumach, Anete; Di Gesu, Regina Sumiko W.; dos Santos, Amélia Miyashiro N.; Bellesi, Newton; Costa-Carvalho, Beatriz T.; Condino-Neto, Antonio
- Abstract
Objective: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. Methods: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA). Results: Around 6,881 samples from newborns were collected and TRECs and KRECs were quantified. The TRECs values ranged between 1 and 1,006 TRECs/μL, with mean and median of 160 and 139 TRECs/μL, respectively. Three samples from patients with severe combined immunodeficiency (SCID) showed TRECs below 4/μL and a patient with DiGeorge syndrome showed undetectable TRECs. KRECs values ranged from 10 to 1,097 KRECs/μL, with mean and median of 130 and 108 KRECs/μL. Four patients with agammaglobulinemia had results below 4 KRECs/μL. The cutoff values were 15 TRECs/μL and 14 KRECs/μL and were established according to the receiver operating characteristic curve analysis, with 100% sensitivity for SCID and agammaglobulinemia detection, respectively. Conclusions: Quantification of TRECs and KRECs was able to diagnose children with T- and/or B-cell lymphopenia in our study, which validated the technique in Brazil and enabled us to implement the newborn screening program for SCID and agammaglobulinemia.
- Subjects
SEVERE combined immunodeficiency; DIAGNOSIS of neonatal diseases; T-cell receptor genes; DIAGNOSIS
- Publication
Revista Paulista de Pediatria, 2017, Vol 35, Issue 1, p25
- ISSN
0103-0582
- Publication type
Article
- DOI
10.1590/1984-0462/;2017;35;1;00013