NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.

Autor: Kanegae MPP; Departamento de Imunologia, Universidade de São Paulo (USP), São Paulo, SP, Brasil., Barreiros LA; Departamento de Imunologia, Universidade de São Paulo (USP), São Paulo, SP, Brasil., Sousa JL; Departamento de Imunologia, Universidade de São Paulo (USP), São Paulo, SP, Brasil., Brito MAS; Departamento de Imunologia, Universidade de São Paulo (USP), São Paulo, SP, Brasil., Oliveira EB Junior; Departamento de Imunologia, Universidade de São Paulo (USP), São Paulo, SP, Brasil., Soares LP; Hospital Municipal Dr. José de Carvalho Florence, São José dos Campos, SP, Brasil., Mazzucchelli JTL; Departamento de Pediatria, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brasil., Fernandes DQ; Hospital da Criança Santo Antonio, Porto Alegre, RS, Brasil., Hadachi SM; APAE-SP, São Paulo, SP, Brasil., Holanda SM; Amparo Maternal, São Paulo, SP, Brasil., Guimarães FATM; Hospital Regional da Asa Sul, Brasília, DF, Brasil., Boacnin MAPVV; Hospital Geral de Carapicuíba, Carapicuíba, SP, Brasil., Pereira MAL; Hospital Municipal São Luiz Gonzaga, SP, Brasil., Bueno JMC; Hospital Municipal Dr. José de Carvalho Florence, São José dos Campos, SP, Brasil., Grumach AS; Ambulatório de Infecções de Repetição, Faculdade de Medicina do ABC, Santo André, SP, Brasil., Gesu RSWD; Hospital da Criança Conceição, Porto Alegre, RS, Brasil., Santos AMND; Departamento de Pediatria, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brasil., Bellesi N; Clínica de Medicina Preventiva do Pará (CLIMEP), Belém, PA, Brasil., Costa-Carvalho BT; Departamento de Pediatria, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brasil., Condino-Neto A; Departamento de Imunologia, Universidade de São Paulo (USP), São Paulo, SP, Brasil.
Jazyk: Portuguese; English
Zdroj: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo [Rev Paul Pediatr] 2017 Jan-Mar; Vol. 35 (1), pp. 25-32.
DOI: 10.1590/1984-0462/;2017;35;1;00013
Abstrakt: 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.
Databáze: MEDLINE
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