Gattorno, M

Magnani, A

Martini, A

Meloni, A

Traggiai, E

Pediatric Rheumatology

English

PubMed

A Magnani

A Meloni

M Gattorno

A Martini

E Traggiai

Springer - Publisher Connector

POSTER PRESENTATION Open Access
B cell subsets phenotype in autoimmunity with
immunodeficiency: analysis of a cohort of
patients with APECED syndrome
A Magnani1*, A Meloni2, M Gattorno1, A Martini1, E Traggiai1
From 18th Pediatric Rheumatology European Society (PReS) Congress
Bruges, Belgium. 14-18 September 2011
Background
Autoimmune polyendocrinopathy candidiasis ectodermal
dystrophy (APECED) is a rare autosomal recessive syn-
drome due to mutations in AIRE, characterized by autoim-
mune endocrinopathies and mucocutaneous candidiasis.
It is accompanied by serum auto-antibodies whose genera-
tion has been mainly related to autoreactive T cells escape
from tolerance mechanisms. Recent data suggest a T cell
independent mechanism implicated in altered peripheral B
cell selection and its possible contribution to the patho-
genesis of autoimmune disease. Despite these observa-
tions, B cell subsets phenotype in these patients is still
poorly characterized.
Aim
To perform a detailed analysis of B and T cell subsets in
a cohort of APECED patients in order to better under-
stand whether an intrinsic alteration in B cell compart-
ment is present. We also evaluated B lymphocytes
related cytokines (BAFF, IL-21) in patients’ sera com-
pared to age matched control.
Methods
Flow cytometric analysis of B cell subsets was performed
in 12 patients with APECED coming from Sardinia, Italy,
compared to age-matched healthy donors. The following
B cell subsets were analysed: transitional, naïve, IgM and
switched memory and plasmacells; T cell subsets: Treg,
CD4 and CD8 T cell subsets (naïve, central memory,
effector memory) ELISA assay was performed for cyto-
kines determination in sera.
Results
Analysis show an altered distribution of the immature
peripheral B cells compartment in APECED patients
and an increased level of BAFF in patients’ sera. The
T cell compartment is skewed towards effector memory
T cells.
Conclusions
Increasing the knowledge on B cells in APECED
patients improves the comprehension of autoimmunity
pathogenesis in immunodeficiency and may allow the
exploration of the possible clinical efficacy of B cell tar-
geted therapy.
Author details
1Laboratory of Immunology of Rheumatic Diseases,U.O. Pediatria II, G. Gaslini
Institute and Department of Pediatrics, University of Genoa, Italy. 2Pediatric
Clinic II, Ospedale Microcitemico and Department of Biomedical and
Biotechnological Science, University of Cagliari, Italy.
Published: 14 September 2011
doi:10.1186/1546-0096-9-S1-P285
Cite this article as: Magnani et al.: B cell subsets phenotype in
autoimmunity with immunodeficiency: analysis of a cohort of patients
with APECED syndrome. Pediatric Rheumatology 2011 9(Suppl 1):P285.
* Correspondence: AlessandraMagnani@ospedale-gaslini.ge.it
1Laboratory of Immunology of Rheumatic Diseases,U.O. Pediatria II, G. Gaslini
Institute and Department of Pediatrics, University of Genoa, Italy
Full list of author information is available at the end of the article
Magnani et al. Pediatric Rheumatology 2011, 9(Suppl 1):P285
http://www.ped-rheum.com/content/9/S1/P285
© 2011 Magnani et al; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in
any medium, provided the original work is properly cited.


B cell subsets phenotype in autoimmunity with immunodeficiency: analysis of a cohort of patients with APECED syndrome

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B cell subsets phenotype in autoimmunity with immunodeficiency: analysis of a cohort of patients with APECED syndrome

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