Insights on the pathogenesis of autoimmune polyendocrine syndromes

Autoimmune polyendocrine syndromes are characterized by the functional impairment of multiple endocrine glands following the loss of immune tolerance. They may be associated with conditions that do not affect endocrine organs, such as alopecia, vitiligo, celiac disease, and autoimmune gastritis with vitamin B12 deficiency. Autoimmune polyendocrine syndromes are characterized by insidious onset of clinical manifestations, presence of circulating autoantibodies, and lymphocytic infiltration of affected tissues and organs, potentially leading to organ failure. Presentation occurs in childhood or advanced age.New components of the syndrome may appear over the course of an individual patient's life. Affected patients present an extreme variability in the frequency and spectrum of autoimmune manifestations affecting patients and their families. Risk of developing various organ-specific autoimmune manifestations is due to the interaction between genetic and environmental factors. Based on their clinical manifestations autoimmune polyendocrine syndromes fall in 4 groups according to their current classification. In this Research Topic we aim to explore current knowledge on autoimmune polyendocrine syndromes derived both from basic science and translation studies. We intend to explore novel insights covering recent advances into the classification, etiopathogenesis, prevention and treatment of these complex disorders. A special attention will be dedicated to autoimmune polyendocrine syndrome Type 1 (APS1, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, APECED) caused by loss of function mutation in the autoimmune regulator gene (AIRE). We are interested in the following types of papers: Full length research articles, Short communications and Reviews including mini reviews. Contributors of the research topic will need to address specific themes including:• Recent advances on the mechanisms of central and peripheral tolerance;• Discoveries on autoreactive and regulatory T cell populations, novel autoantibodies and genetic defects underlining the etiopathogenesis of autoimmune polyendocrine syndromes;• Investigating the association of polyautoimmunity and immunodeficiency manifestations and cancer occurrence in autoimmune polyendocrine syndromes;• In particular, the influence of AIRE mutations with autosomal recessive or dominant transmission and of other putative genetic defects occurring in AIRE partners or interactors and in other genes affecting the immune response. The interaction of genetic and environmental factors in the occurrence of phenotypic disease manifestations in patients and their families will be discussed. Specific themes will be covered regarding the emerging opportunities for the prevention of the incidence and treatment of complex autoimmune polyendocrine associations. Topic editors: Alessandra Fierabracci, Anette S. B. Wolff Source: https://www.frontiersin.org/research-topics/77128/insights-on-the-pathogenesis-of-autoimmune-polyendocrine-syndromes