Abnormalities in lymphocyte populations in infants with neural crest cardiovascular defects

Abstract

The DiGeorge syndrome has been associated with various immune deficits. Embryologically, defects of the neural crest are associated with conotruncal and aortic arch abnormalities. The objective of this study was to determine if children with neural crest congenital heart defects can have subtle but significant immunodeficiencies. Complete blood counts with differential counts and a standard lymphocyte immunophenotyping panel of selected monoclonal antibodies were performed on peripheral blood from 20 children with neural crest cardiac disease and 34 normal newborns. The children with cardiac disease were grouped as survivors and nonsurvivors. The mean total white blood cell count was similar for all groups, but the percent lymphocytes was significantly less in the nonsurvivors than in the survivors and normal newborns (p < 0. 02). The lymphocyte subsets affected were CD2, CD3, and CD4. When the cardiac patients were compared to the normal newborns, again differences in lymphocyte subsets CD2, CD3, and CD4 were seen. When comparing nonsurvivors with survivors, the mean percentages of the CD2, CD3, and CD4 T lymphocyte markers, as well as the mean lymphocyte, B cell (CD20), and natural killer cell (CD16) percentages were all lower in the nonsurvivors. It was concluded that abnormalities in specific lymphocyte populations and their subsets may be predictors of infants at greatest risk for immunodeficiency complications. Therefore children with neural crest cardiac defects should have evaluations of lymphocyte subsets at birth and be treated as if potentially immunodeficient.

Hematological indices in pediatric patients with acyanotic congenital heart disease: a cross-sectional study of 248 patients

“…In a very recent study by Sarwar et al assessing the hematological profile of VSD patients, 33.3% of VSD patients aged between 4 and 5 years had lower counts of WBC count; however, the mentioned study did not evaluate the neutrophil count [41]. Reduced T lymphocyte cell and B lymphocyte cell levels have also been reported in the literature in the past decades [42,43].…”

T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome

“…In recent years, limited information has been reported on the immune defect in patients with chromosome 22q11.2 deletion syndromes [15–20]. In particular, the lack of detailed studies of T cell receptor (TCR) repertoire in residual T cells of DGS patients is surprising because of the possible relevance of this information in understanding T cell differentiation and, consequently, pathogenesis of the disease.…”

22q11.2 microdeletions in adults with familial tetralogy of Fallot

“…Although a higher incidence of 22q11.2 microdeletions might have been suspected in this population of patients with TOF and familial congenital heart disease, this was not the case. This lower incidence of the 22q11.2 microdeletion in our population may reflect a true difference in the In an article by Rhoden et al, 25 T-cell deficiencies were much more common in nonsurvivors than survivors of surgery for conotruncal cardiac defects. Sullivan et al have reported that the immune deficiencies seen in patients with the 22q11.2 microdeletion do not correlate with the clinical phenotype and are not limited to those individuals with DG.…”