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.
| Original language | English |
|---|---|
| Pages (from-to) | 382-388 |
| Number of pages | 7 |
| Journal | Pediatric Allergy and Immunology |
| Volume | 17 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Aug 2006 |
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Keywords
- Antibody deficiency
- CD27+B cells
- DiGeorge syndrome
- Recurrent infections
ASJC Scopus subject areas
- Immunology and Allergy
- Pediatrics, Perinatology, and Child Health
- Immunology
Cite this
Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). / Finocchi, A.; Di Cesare, S.; Romiti, M. L.; Capponi, C.; Rossi, P.; Carsetti, R.; Cancrini, C.
In: Pediatric Allergy and Immunology, Vol. 17, No. 5, 08.2006, p. 382-388.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)
AU - Finocchi, A.
AU - Di Cesare, S.
AU - Romiti, M. L.
AU - Capponi, C.
AU - Rossi, P.
AU - Carsetti, R.
AU - Cancrini, C.
PY - 2006/8
Y1 - 2006/8
N2 - 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.
AB - 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.
KW - Antibody deficiency
KW - CD27+B cells
KW - DiGeorge syndrome
KW - Recurrent infections
UR - http://www.scopus.com/inward/record.url?scp=33745611372&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33745611372&partnerID=8YFLogxK
U2 - 10.1111/j.1399-3038.2006.00409.x
DO - 10.1111/j.1399-3038.2006.00409.x
M3 - Article
C2 - 16846458
AN - SCOPUS:33745611372
VL - 17
SP - 382
EP - 388
JO - Pediatric Allergy and Immunology
JF - Pediatric Allergy and Immunology
SN - 0905-6157
IS - 5
ER -