| Full text | |
| Author(s): Show less - |
Marilia Pyles P. Kanegae
[1]
;
Lucila Akune Barreiros
[2]
;
Jusley Lira Sousa
[3]
;
Marco Antônio S. Brito
[4]
;
Edgar Borges de Oliveira Junior
[5]
;
Lara Pereira Soares
[6]
;
Juliana Themudo L. Mazzucchelli
[7]
;
Débora Quiorato Fernandes
[8]
;
Sonia Marchezi Hadachi
[9]
;
Silvia Maia Holanda
[10]
;
Flavia Alice T. M. Guimarães
[11]
;
Maura Aparecida P. V. V. Boacnin
[12]
;
Marley Aparecida L. Pereira
[13]
;
Joaquina Maria C. Bueno
[14]
;
Anete Sevciovic Grumach
[15]
;
Regina Sumiko W. Di Gesu
[16]
;
Amélia Miyashiro N. dos Santos
[17]
;
Newton Bellesi
[18]
;
Beatriz T. Costa-Carvalho
[19]
;
Antonio Condino-Neto
[20]
Total Authors: 20
|
| Affiliation: Show less - | [1] Universidade de São Paulo. Departamento de Imunologia - Brasil
[2] Universidade de São Paulo. Departamento de Imunologia - Brasil
[3] Universidade de São Paulo. Departamento de Imunologia - Brasil
[4] Universidade de São Paulo. Departamento de Imunologia - Brasil
[5] Universidade de São Paulo. Departamento de Imunologia - Brasil
[6] Hospital Municipal Dr. José de Carvalho Florence - Brasil
[7] Universidade Federal de São Paulo. Departamento de Pediatria - Brasil
[8] Hospital da Criança Santo Antonio - Brasil
[9] APAE-SP - Brasil
[10] Amparo Maternal - Brasil
[11] Hospital Regional da Asa Sul - Brasil
[12] Hospital Geral de Carapicuíba - Brasil
[13] Hospital Municipal São Luiz Gonzaga - Brasil
[14] Hospital Municipal Dr. José de Carvalho Florence - Brasil
[15] Faculdade de Medicina do ABC. Ambulatório de Infecções de Repetição - Brasil
[16] Hospital da Criança Conceição - Brasil
[17] Universidade Federal de São Paulo. Departamento de Pediatria - Brasil
[18] Clínica de Medicina Preventiva do Pará - Brasil
[19] Universidade Federal de São Paulo. Departamento de Pediatria - Brasil
[20] Universidade de São Paulo. Departamento de Imunologia - Brasil
Total Affiliations: 20
|
| Document type: | Journal article |
| Source: | Revista Paulista de Pediatria; v. 35, n. 1, p. 25-32, 2017-03-00. |
| Abstract | |
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. (AU) | |
| FAPESP's process: | 12/51233-2 - Congenital anomalies of the immune system: newborn screening, early intervention, genetic counseling and epidemiological study |
| Grantee: | Antonio Condino Neto |
| Support Opportunities: | Research Grants - Research in Public Policies for the National Health Care System (PP-SUS) |