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The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives

Delfien Bogaert, MARIEKE DE BRUYNE, VERONIQUE DEBACKER, Pauline Depuydt UGent, Katleen De Preter UGent, CAROLIEN BONROY, Jan Philippé UGent, MARIA BORDON CUETO DE BRAEM, Bart Lambrecht UGent, Tessa Kerre UGent, et al. (2017) HAEMATOLOGICA. 102(1). p.192-202
abstract
The etiology of primary antibody deficiencies is largely unknown. Beside rare monogenic forms, the majority of cases seem to have a more complex genetic basis. Whereas common variable immunodeficiency has been investigated in depth, there are only a few reports on milder primary antibody deficiencies such as idiopathic primary hypogam-maglobulinemia and IgG subclass deficiency. We performed flow cytometric immunophenotyping in 33 patients with common variable immunodeficiency, 23 with idiopathic primary hypogammaglobulinemia and 21 with IgG subclass deficiency, as well as in 47 asymptomatic first-degree family members of patients and 101 unrelated healthy controls. All three groups of patients showed decreased memory B-and naive T-cell subsets and decreased B-cell activating factor receptor expression. In contrast, circulating follicular helper T-cell frequency and expression of inducible T-cell costimulator and chemokine receptors were only significantly altered in patients with common variable immunodeficiency. Asymptomatic first-degree family members of patients demonstrated similar, albeit intermediate, alterations in naive and memory B-and T-cell subsets. About 13% of asymptomatic relatives had an abnormal peripheral B-cell composition. Furthermore, asymptomatic relatives showed decreased levels of CD4(+) recent thymic emigrants and increased central memory T cells. Serum IgG and IgM levels were also significantly lower in asymptomatic relatives than in healthy controls. We conclude that, in our cohort, the immunophenotypic landscape of primary antibody deficiencies comprises a spectrum, in which some alterations are shared between all primary antibody deficiencies whereas others are only associated with common variable immunodeficiency. Importantly, asymptomatic first-degree family members of patients were found to have an intermediate phenotype for peripheral Band T-cell subsets.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
COMMON VARIABLE IMMUNODEFICIENCY, MEMORY B-CELLS, IMMUNE-DEFICIENCY, HUMORAL IMMUNITY, T-LYMPHOCYTES, CVID PATIENTS, EXPRESSION, MUTATIONS, DIFFERENTIATION, CLASSIFICATION
journal title
HAEMATOLOGICA
Haematologica
volume
102
issue
1
pages
192 - 202
Web of Science type
Article
Web of Science id
000392921800033
ISSN
0390-6078
DOI
10.3324/haematol.2016.149112
language
English
UGent publication?
yes
classification
A1
copyright statement
I have retained and own the full copyright for this publication
id
8515383
handle
http://hdl.handle.net/1854/LU-8515383
date created
2017-03-22 15:25:59
date last changed
2017-06-02 13:54:16
@article{8515383,
  abstract     = {The etiology of primary antibody deficiencies is largely unknown. Beside rare monogenic forms, the majority of cases seem to have a more complex genetic basis. Whereas common variable immunodeficiency has been investigated in depth, there are only a few reports on milder primary antibody deficiencies such as idiopathic primary hypogam-maglobulinemia and IgG subclass deficiency. We performed flow cytometric immunophenotyping in 33 patients with common variable immunodeficiency, 23 with idiopathic primary hypogammaglobulinemia and 21 with IgG subclass deficiency, as well as in 47 asymptomatic first-degree family members of patients and 101 unrelated healthy controls. All three groups of patients showed decreased memory B-and naive T-cell subsets and decreased B-cell activating factor receptor expression. In contrast, circulating follicular helper T-cell frequency and expression of inducible T-cell costimulator and chemokine receptors were only significantly altered in patients with common variable immunodeficiency. Asymptomatic first-degree family members of patients demonstrated similar, albeit intermediate, alterations in naive and memory B-and T-cell subsets. About 13\% of asymptomatic relatives had an abnormal peripheral B-cell composition. Furthermore, asymptomatic relatives showed decreased levels of CD4(+) recent thymic emigrants and increased central memory T cells. Serum IgG and IgM levels were also significantly lower in asymptomatic relatives than in healthy controls. We conclude that, in our cohort, the immunophenotypic landscape of primary antibody deficiencies comprises a spectrum, in which some alterations are shared between all primary antibody deficiencies whereas others are only associated with common variable immunodeficiency. Importantly, asymptomatic first-degree family members of patients were found to have an intermediate phenotype for peripheral Band T-cell subsets.},
  author       = {Bogaert, Delfien and DE BRUYNE, MARIEKE and DEBACKER, VERONIQUE and Depuydt, Pauline and De Preter, Katleen and BONROY, CAROLIEN and Philipp{\'e}, Jan and BORDON CUETO DE BRAEM, MARIA and Lambrecht, Bart and Kerre, Tessa and Cerutti, Andrea and Vermaelen, Karim and HAERYNCK, FILOMEEN and Dullaers, Melissa},
  issn         = {0390-6078},
  journal      = {HAEMATOLOGICA},
  keyword      = {COMMON VARIABLE IMMUNODEFICIENCY,MEMORY B-CELLS,IMMUNE-DEFICIENCY,HUMORAL IMMUNITY,T-LYMPHOCYTES,CVID PATIENTS,EXPRESSION,MUTATIONS,DIFFERENTIATION,CLASSIFICATION},
  language     = {eng},
  number       = {1},
  pages        = {192--202},
  title        = {The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives},
  url          = {http://dx.doi.org/10.3324/haematol.2016.149112},
  volume       = {102},
  year         = {2017},
}

Chicago
Bogaert, Delfien, MARIEKE DE BRUYNE, VERONIQUE DEBACKER, Pauline Depuydt, Katleen De Preter, CAROLIEN BONROY, Jan Philippé, et al. 2017. “The Immunophenotypic Fingerprint of Patients with Primary Antibody Deficiencies Is Partially Present in Their Asymptomatic First-degree Relatives.” Haematologica 102 (1): 192–202.
APA
Bogaert, Delfien, DE BRUYNE, M., DEBACKER, V., Depuydt, P., De Preter, K., BONROY, C., Philippé, J., et al. (2017). The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. HAEMATOLOGICA, 102(1), 192–202.
Vancouver
1.
Bogaert D, DE BRUYNE M, DEBACKER V, Depuydt P, De Preter K, BONROY C, et al. The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. HAEMATOLOGICA. 2017;102(1):192–202.
MLA
Bogaert, Delfien, MARIEKE DE BRUYNE, VERONIQUE DEBACKER, et al. “The Immunophenotypic Fingerprint of Patients with Primary Antibody Deficiencies Is Partially Present in Their Asymptomatic First-degree Relatives.” HAEMATOLOGICA 102.1 (2017): 192–202. Print.