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

Background 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.