Newborn screening for immunodeficiency using trec and krec at a maternity hospital in rio de janeiro
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Abstract
Objective: Apply a screening test for inborn errors of immunity
(IEI), describe results comparing differences between preterm
and full-term infants, and associated clinical findings. Methods:
Descriptive study in which 384 blood samples were obtained on
filter paper from newborns at the Maternity School of the Federal
University of Rio de Janeiro (UFRJ) to quantify the number of
excised circles of T cell receptors (TREC: T-Cell Receptor Excision
Circles) and Kappa-deleting Recombination Excision Circles
(KREC) with real-time polymerase chain reaction (PCR) technique.
The variables were compared using the Mann-Whitney test and
considered significant when p < 0.05. Results: 383 valid samples,
TREC values ranging from 0 to 641 (median: 151, mean: 169) and
KREC values from 0 to 397 (median: 74, mean: 86.5) molecules
per microliter. Of the 7 samples with values below normal, 6
were repeated. No case of immunodeficiency was confirmed.
Quantifications of TREC and KREC of preterm infants were
significantly lower than that of term infants (p<0.0001 and
p=0.03, respectively), however, in relation to KREC, there was
no difference between preterm infants from 34 weeks and term
(p=0.86). Conclusion: Prematurity influences the quantification
of TREC and KREC, but the vast majority of preterm infants had
normal results, emphasizing the importance of the examination
even in these newborns. The results suggest that repeat KREC
assessment in preterm infants, when necessary, can be performed
from 34 weeks onwards.
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