DiGeorge syndrome (DGS) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and thymic hypoplasia. Although there are some reports addressing lymphocytes counts and function in DGS children over time, few data have been reported on the T-cell receptor V beta (TCRBV) repertoire in relation to disease progression. The aim of this study was to evaluate the degree and nature of immunodeficiency and to investigate a possible correlation to clinical findings. We used third complementary region (CDR3) size spectratyping as a tool for monitoring T-cell repertoire diversity in 7 DGS's children. The rate of thymic output, the phenotype and function of peripheral T-cells and the Immoral immunity were also investigated. At baseline a profound alteration of the TCR repertoire was noted, mainly in the CD8+ T-cells, in DGS patients when compared to a control group. Furthermore, analysis of thymic output showed a significant decrease in TCR rearrangement excision circles (TRECs) levels in the patient group. Immunoglobulin abnormalities were also detected. The observed TCR repertoire alterations, although not statistically significant, may suggest an increased susceptibility to infections. A parallel increase in the TCR repertoire diversity and clinical improvement occurred during the follow-up. Our results confirm that the extent of immunodeficiency is highly variable and could improve through childhood, and indicate that TCR repertoire may be a useful marker to clinically monitor thymic function in this primary immunodeficiency.

Cancrini, C., Romiti, M.l., Finocchi, A., Di Cesare, S., Ciaffi, P., Capponi, C., et al. (2005). Post-natal ontogenesis of the T-cell receptor CD4 and CD8 V beta repertoire and immune function in children with DiGeorge syndrome. JOURNAL OF CLINICAL IMMUNOLOGY, 25(3), 265-274 [10.1007/s10875-005-4085-3].

Post-natal ontogenesis of the T-cell receptor CD4 and CD8 V beta repertoire and immune function in children with DiGeorge syndrome

CANCRINI, CATERINA;FINOCCHI, ANDREA;ROSSI, PAOLO
2005-01-01

Abstract

DiGeorge syndrome (DGS) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and thymic hypoplasia. Although there are some reports addressing lymphocytes counts and function in DGS children over time, few data have been reported on the T-cell receptor V beta (TCRBV) repertoire in relation to disease progression. The aim of this study was to evaluate the degree and nature of immunodeficiency and to investigate a possible correlation to clinical findings. We used third complementary region (CDR3) size spectratyping as a tool for monitoring T-cell repertoire diversity in 7 DGS's children. The rate of thymic output, the phenotype and function of peripheral T-cells and the Immoral immunity were also investigated. At baseline a profound alteration of the TCR repertoire was noted, mainly in the CD8+ T-cells, in DGS patients when compared to a control group. Furthermore, analysis of thymic output showed a significant decrease in TCR rearrangement excision circles (TRECs) levels in the patient group. Immunoglobulin abnormalities were also detected. The observed TCR repertoire alterations, although not statistically significant, may suggest an increased susceptibility to infections. A parallel increase in the TCR repertoire diversity and clinical improvement occurred during the follow-up. Our results confirm that the extent of immunodeficiency is highly variable and could improve through childhood, and indicate that TCR repertoire may be a useful marker to clinically monitor thymic function in this primary immunodeficiency.
2005
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
English
DiGeorge syndrome; Recurrent infections; TCR repertoire spectratyping; TRECs
biological marker; CD4 antigen; CD8 antigen; immunoglobulin; T lymphocyte receptor beta chain; article; cellular immunity; clinical article; clinical feature; controlled study; correlation analysis; DiGeorge syndrome; female; follow up; genetic variability; human; human cell; humoral immune deficiency; humoral immunity; immunity; immunological monitoring; immunostimulation; infant; infection sensitivity; lymphocyte function; male; ontogeny; patient coding; phenotype; phenotypic variation; preschool child; priority journal; spectroscopy; statistical analysis; statistical significance; T lymphocyte; thymus function; Antibody Formation; CD4-Positive T-Lymphocytes; CD8-Positive T-Lymphocytes; Child; Child, Preschool; Complementarity Determining Regions; DiGeorge Syndrome; Female; Gene Rearrangement; Genes, Immunoglobulin; Humans; Infant; Male; Phenotype; Receptors, Antigen, T-Cell, alpha-beta; Thymus Gland
Cancrini, C., Romiti, M.l., Finocchi, A., Di Cesare, S., Ciaffi, P., Capponi, C., et al. (2005). Post-natal ontogenesis of the T-cell receptor CD4 and CD8 V beta repertoire and immune function in children with DiGeorge syndrome. JOURNAL OF CLINICAL IMMUNOLOGY, 25(3), 265-274 [10.1007/s10875-005-4085-3].
Cancrini, C; Romiti, Ml; Finocchi, A; Di Cesare, S; Ciaffi, P; Capponi, C; Pahwa, S; Rossi, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/57599
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