Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.

@article{Meloni2012AutoimmunePS,
  title={Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.},
  author={Antonella Meloni and Nick Willcox and Anthony Meager and Michela Atzeni and Anette B\oe Wolff and Eystein Sverre Husebye and Maria Furcas and Maria Cristina Rosatelli and Antonio Cao and Mauro Congia},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2012},
  volume={97 4},
  pages={1114-24}
}
CONTEXT Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene, including the distinctive R139X in Sardinia. Its rarity and great variability in manifestations/onset ages make early diagnosis difficult. To date, very few longitudinal studies of APS1 patients have been reported. OBJECTIVE The aim of this study was to describe the features and clinical course of APS1 and correlate them with AIRE and HLA… CONTINUE READING

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