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


Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive syndrome due to mutations in AIRE, characterized by autoimmune endocrinopathies and mucocutaneous candidiasis. It is accompanied by serum auto-antibodies whose generation 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 pathogenesis of autoimmune disease. Despite these observations, B cell subsets phenotype in these patients is still poorly characterized.


To perform a detailed analysis of B and T cell subsets in a cohort of APECED patients in order to better understand whether an intrinsic alteration in B cell compartment is present. We also evaluated B lymphocytes related cytokines (BAFF, IL-21) in patients’ sera compared to age matched control.


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 cytokines determination in sera.


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.


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 targeted therapy.

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Correspondence to A Magnani.

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This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Magnani, A., Meloni, A., Gattorno, M. et al. B cell subsets phenotype in autoimmunity with immunodeficiency: analysis of a cohort of patients with APECED syndrome. Pediatr Rheumatol 9 (Suppl 1), P285 (2011).

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