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 Vβ (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 humoral 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.
| Original language | English |
|---|---|
| Pages (from-to) | 265-274 |
| Number of pages | 10 |
| Journal | Journal of Clinical Immunology |
| Volume | 25 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - May 2005 |
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Keywords
- DiGeorge syndrome
- Recurrent infections
- TCR repertoire spectratyping
- TRECs
ASJC Scopus subject areas
- Immunology and Allergy
- Immunology
Cite this
Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vβ repertoire and immune function in children with DiGeorge syndrome. / Cancrini, Caterina; Romiti, Maria Luisa; Finocchi, Andrea; Di Cesare, Silvia; Ciaffi, Patrizia; Capponi, Claudia; Pahwa, Savita; Rossi, Paolo.
In: Journal of Clinical Immunology, Vol. 25, No. 3, 05.2005, p. 265-274.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vβ repertoire and immune function in children with DiGeorge syndrome
AU - Cancrini, Caterina
AU - Romiti, Maria Luisa
AU - Finocchi, Andrea
AU - Di Cesare, Silvia
AU - Ciaffi, Patrizia
AU - Capponi, Claudia
AU - Pahwa, Savita
AU - Rossi, Paolo
PY - 2005/5
Y1 - 2005/5
N2 - 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 Vβ (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 humoral 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.
AB - 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 Vβ (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 humoral 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.
KW - DiGeorge syndrome
KW - Recurrent infections
KW - TCR repertoire spectratyping
KW - TRECs
UR - http://www.scopus.com/inward/record.url?scp=21244439896&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=21244439896&partnerID=8YFLogxK
U2 - 10.1007/s10875-005-4085-3
DO - 10.1007/s10875-005-4085-3
M3 - Article
C2 - 15981092
AN - SCOPUS:21244439896
VL - 25
SP - 265
EP - 274
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
SN - 0271-9142
IS - 3
ER -