Populations of peripheral blood lymphocytes in pediatric patients with conotruncal cardiac anomalies

Srđa Janković, Dragana Janić, Lidija Dokmanović-Krivokapić, Goran Čuturilo


Objective - To determine the abundance of principal lymphocyte subpopulations in the peripheral blood of patients with conotruncal cardiac anomalies. Conotruncal cardiac anomalies arise from a developmental defect of the conotruncal septum and often occur as part of 22q11.2 deletion syndrome, also characterized by hypoparathyroidism, growth retardation, characteristic facial dysmorphia and an immune system impairment due to thymic hypoplasia.

Patients and Methods - Deletion of 22q11.2 is detected by fluorescent in situ hybridization in over 90% of patients showing the characteristic phenotype. In these patients, a broad spectrum of immunological defects has been described. Most typical of these is a mild to moderate decrease of T cell number and function. In this study, we determined the numbers of lymphocyte subpopulations (CD3+, CD19+, CD3-CD16/CD56+, CD3+CD4+, CD3+CD8+, CD3+HLA-DR+) in patients treated for conotruncal anomalies (8 patients with 22q11.2 deletion, 7 without 22q11.2 deletion and 4 in whom deletion was not sought) by immunofluorescence/flow cytometry.

Results - The number of patients whose CD3+ cells were decreased in number, as compared to the age-specific reference range, was 4/8, 3/7 and 2/4 in the three groups, respectively (total: 9/19 patients). The remaining lymphocyte subpopulations investigated demonstrated wide variability in all three groups of patients.

Conclusion - This finding is in concurrence with published data and, overall, supports the significance of determining the numbers of lymphocyte subpopulations in all patients with conotruncal anomalies, whether carrying 22q11.2 deletion or not.


Conotruncal anomalies; Deletion 22q11.2; Lymphocytes

Full Text:


DOI: https://doi.org/10.5457/p2005-114.10


  • There are currently no refbacks.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

The full text of articles published in this journal can be used free of charge for personal and educational purposes while respecting authors and publishers' copyrights. For commercial purposes no part of this journal may be reproduced without the written permission of the publisher.