The spectrum of T-cell abnormalities in 22q11.2 syndrome is quite broad, ranging from profound and life threatening to non-existent defects. Humoral abnormalities have been described in some of these patients, although no data are currently available on their phenotypical and functional B cell subsets. The purpose of this study was to investigate humoral immune function in a cohort of 13 children with DiGeorge syndrome by immunophenotyping B and by analysing their functionality in vivo. Humoral immunity was assessed by serum immunoglobulin evaluation, IgG subclasses determination, and testing of specific antibody titers to recall antigens. B cells were analyzed by flow cytometry and the relevant percentage of membrane surface expression of CD27, IgM, IgD was evaluated. In our cohort, one of 13 children (7.7%) had a complete IgA deficiency, four of 13 (30.7%) had minor immunoglobulin abnormalities, and five (38%) had an impaired production of specific antibodies. Five of 13 children (38%) had recurrent infections. Interestingly, peripheral CD27+ B cells were reduced in our patients as compared with age-matched healthy controls, and this decrement was statistically significant for IgM+ IgD+ CD27+ B cells. Immunoglobulin abnormalities were associated with the occurrence of recurrent infections. We conclude that a significant proportion of patients with DiGeorge syndrome have defective humoral immunity, which may represent an additional pathogenic mechanism underlying the increased susceptibility to infections. Whether the decreased CD27+ B-cell subset might be one of the defects that contribute to impaired humoral immunity, and to susceptibility to infection remains to be elucidated.

Finocchi, A., Di Cesare S., R., Rossi, P., Carsetti, R., Cancrini, C. (2006). Humoral immune responses and CD27+B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). PEDIATRIC ALLERGY AND IMMUNOLOGY, 17(5), 382-388 [10.1111/j.1399-3038.2006.00409.x].

Humoral immune responses and CD27+B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)

FINOCCHI, ANDREA;ROSSI, PAOLO;CANCRINI, CATERINA
2006-08-01

Abstract

The spectrum of T-cell abnormalities in 22q11.2 syndrome is quite broad, ranging from profound and life threatening to non-existent defects. Humoral abnormalities have been described in some of these patients, although no data are currently available on their phenotypical and functional B cell subsets. The purpose of this study was to investigate humoral immune function in a cohort of 13 children with DiGeorge syndrome by immunophenotyping B and by analysing their functionality in vivo. Humoral immunity was assessed by serum immunoglobulin evaluation, IgG subclasses determination, and testing of specific antibody titers to recall antigens. B cells were analyzed by flow cytometry and the relevant percentage of membrane surface expression of CD27, IgM, IgD was evaluated. In our cohort, one of 13 children (7.7%) had a complete IgA deficiency, four of 13 (30.7%) had minor immunoglobulin abnormalities, and five (38%) had an impaired production of specific antibodies. Five of 13 children (38%) had recurrent infections. Interestingly, peripheral CD27+ B cells were reduced in our patients as compared with age-matched healthy controls, and this decrement was statistically significant for IgM+ IgD+ CD27+ B cells. Immunoglobulin abnormalities were associated with the occurrence of recurrent infections. We conclude that a significant proportion of patients with DiGeorge syndrome have defective humoral immunity, which may represent an additional pathogenic mechanism underlying the increased susceptibility to infections. Whether the decreased CD27+ B-cell subset might be one of the defects that contribute to impaired humoral immunity, and to susceptibility to infection remains to be elucidated.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/38 - Pediatria Generale e Specialistica
English
Con Impact Factor ISI
DiGeorge syndrome; antibody deficiency; CD27+B cells; recurrent infections
Finocchi, A., Di Cesare S., R., Rossi, P., Carsetti, R., Cancrini, C. (2006). Humoral immune responses and CD27+B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). PEDIATRIC ALLERGY AND IMMUNOLOGY, 17(5), 382-388 [10.1111/j.1399-3038.2006.00409.x].
Finocchi, A; Di Cesare S., Rml; Rossi, P; Carsetti, R; Cancrini, C
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/30511
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