Publications by authors named "C Betterle"

Article Synopsis
  • - Autoimmune polyglandular syndromes (APS) are divided into four types, with APS1 linked to specific gene mutations, while the genetic factors for APS2-4 are not fully understood.
  • - A study examining 74 APS patients identified six Single Nucleotide Polymorphisms (SNPs) in a specific gene promoter, with most of these SNPs affecting the stability of the nucleic acid structure.
  • - The findings suggest a potential link between promoter polymorphisms and APS susceptibility, particularly in APS1, APS3, and APS4, but further research with larger groups is needed to confirm this association.
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Objectives: Over the past 3 years, coronavirus disease 2019 with its worldwide spread has profoundly marked public health, therefore anti-COVID-19 vaccinations have been developed to prevent the dissemination of the disease. To date, 71 cases of Graves' disease (GD) after vaccination against SARS-Cov-2 were described in the adult population. Our goal is to present the first case in the paediatric population.

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Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare monogenic disease determined by biallelic mutations in gene, which encodes a transcription factor essential for central immune tolerance. Classic diagnosis is determined by the presence of two of the main APECED clinical diseases: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease. Non-endocrine autoimmunity, involving the liver, intestine, eyes, and kidneys, is generally reported in a minority of European patients, while American APECED patients have a higher tendency of developing organ-specific non-endocrine manifestations early in life.

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Background: The number of recognised distinct autoimmune diseases (AIDs) has progressively increased over the years with more than 100 being reported today. The natural history of AIDs is characterized by progression from latent and subclinical to clinical stages and is associated with the presence of the specific circulating autoantibodies. Once presented, AIDs are generally chronic conditions.

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