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

Delfien Bogaert (UGent) , Marieke De Bruyne (UGent) , Veronique Debacker (UGent) , Pauline Depuydt, Katleen De Preter (UGent) , Carolien Bonroy (UGent) , Jan Philippé (UGent) , Maria Bordon Cueto De Braem (UGent) , Bart Lambrecht (UGent) , Tessa Kerre (UGent) , et al.
(2017) HAEMATOLOGICA. 102(1). p.192-202
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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.
Keywords
COMMON VARIABLE IMMUNODEFICIENCY, MEMORY B-CELLS, IMMUNE-DEFICIENCY, HUMORAL IMMUNITY, T-LYMPHOCYTES, CVID PATIENTS, EXPRESSION, MUTATIONS, DIFFERENTIATION, CLASSIFICATION

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MLA
Bogaert, Delfien, et al. “The Immunophenotypic Fingerprint of Patients with Primary Antibody Deficiencies Is Partially Present in Their Asymptomatic First-Degree Relatives.” HAEMATOLOGICA, vol. 102, no. 1, 2017, pp. 192–202, doi:10.3324/haematol.2016.149112.
APA
Bogaert, D., De Bruyne, M., Debacker, V., Depuydt, P., De Preter, K., Bonroy, C., … Dullaers, M. (2017). The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives. HAEMATOLOGICA, 102(1), 192–202. https://doi.org/10.3324/haematol.2016.149112
Chicago author-date
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. https://doi.org/10.3324/haematol.2016.149112.
Chicago author-date (all authors)
Bogaert, Delfien, Marieke De Bruyne, Veronique Debacker, Pauline Depuydt, Katleen De Preter, Carolien Bonroy, Jan Philippé, Maria Bordon Cueto De Braem, Bart Lambrecht, Tessa Kerre, Andrea Cerutti, Karim Vermaelen, Filomeen Haerynck, and Melissa Dullaers. 2017. “The Immunophenotypic Fingerprint of Patients with Primary Antibody Deficiencies Is Partially Present in Their Asymptomatic First-Degree Relatives.” HAEMATOLOGICA 102 (1): 192–202. doi:10.3324/haematol.2016.149112.
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.
IEEE
[1]
D. Bogaert et al., “The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives,” HAEMATOLOGICA, vol. 102, no. 1, pp. 192–202, 2017.
@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 Philippé, 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}},
  keywords     = {{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://doi.org/10.3324/haematol.2016.149112}},
  volume       = {{102}},
  year         = {{2017}},
}

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