Evaluation of thymopoiesis in healthy Turkish children aged 0-6 years

Akif Kavgacı1, Deniz Bayrakoğlu2, Sevgi Köstel Bal2

  • 1Department of Pediatrics, Ankara University Faculty of Medicine, Ankara.

Insights

This study establishes reference values for recent thymic emigrants (RTE) in Turkish children, crucial for diagnosing primary immunodeficiencies (PIDs) like SCID. These findings aid in early diagnosis and monitoring immune reconstitution.

Area of Science:

  • Immunology
  • Pediatrics
  • Public Health

Background:

  • Primary immunodeficiencies (PIDs) are a significant public health concern requiring early diagnosis and treatment.
  • Severe combined immunodeficiency (SCID) involves defective T-cell development due to genetic mutations affecting thymopoiesis.
  • Assessing thymopoiesis is critical for diagnosing SCID and other combined immune deficiencies (CIDs).

Purpose of the Study:

  • To establish reference values for recent thymic emigrants (RTE) in healthy Turkish children (0-6 years).
  • To evaluate thymopoiesis by measuring RTE (T lymphocytes expressing CD4, CD45RA, CD31).
  • To provide a benchmark for diagnosing PIDs in regions lacking newborn screening.

Main Methods:

  • Flow cytometry was used to measure RTE in the peripheral blood of 120 healthy Turkish children.
  • Samples included cord blood and peripheral blood from infants and children aged 0-6 years.
  • Analysis focused on absolute RTE counts and their relative ratios.

Main Results:

  • RTE cell counts and ratios were highest in the first year of life, peaking at 6 months.
  • RTE levels significantly decreased with age after birth.
  • Absolute lymphocyte count (ALC) also showed a decreasing trend with age.

Conclusions:

  • Normal thymopoiesis and RTE reference levels were established for healthy Turkish children (0-6 years).
  • This data can aid in the early diagnosis and monitoring of immune reconstitution in PID patients, particularly SCID and CIDs.
  • RTE measurement offers a fast, reliable marker for PIDs, especially where newborn screening (NBS) is unavailable.
Abstract