Background: The clinical experience gathered throughout the years
endorses primary immunodeficiency diseases (PIDs) awareness and guides research
into newborn screening and future therapeutic strategies.Combined T-cell
receptor excision circle levels (TRECs) and kappa-deleting recombination
excision circles (KRECs) assay paves the way to new potential applications in
this field. Objectives: We aimed to establish a technique for quantification of
TRECs and KRECs in Egyptian individuals in our laboratory and to set a lower
threshold of normal for TRECs and KRECs in pediatric population for different
age groups as a start for its implementation in newborn screening protocols for
PIDs. Methods: 50 apparently healthy children (25 males and 25 females) with age
ranging from 1 day to 16 years were analyzed..Combined quantification of TRECs
and KRECs in the genomic DNA of peripheral blood mononuclear cells was
performed using real-time quantitative PCR. Results: Individuals in the study
were divided in to 5 different age groups Data regarding lower threshold of
normal for TRECs and KRECs copies per ml of blood among the study group was
obtained. A highly significant negative correlation between TRECs and KRECs,
both calculated per 106 PBMCs and per ml of blood and age was observed. On the
contrary, there was no statistically significant differences in the studied
parameters between males and females when evaluated regardless of age (p
value=0.697). Conclusion: It appeared that it is technically feasible to
introduce the TRECs/KRECs quantitation by real time PCR into routine laboratory
practice to be used in the near future both for new born screening for PIDs -
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