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Polyendocrine Disorders and Endocrine Neoplastic Syndromes pp 1–21Cite as

The Natural History of APS1

Pathogenesis and Long-Term Follow-Up

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Part of the book series: Endocrinology ((ENDOCR))

Abstract

Autoimmune polyendocrine syndrome type I (APS-1) is a severe autoimmune disease that is caused by mutations in the autoimmune regulator (AIRE) gene. The clinical criteria are based on at least two of the three major manifestations: chronic mucocutaneous candidiasis, autoimmune adrenal insufficiency, and hypoparathyroidism. A spectrum of other manifestations of both endocrine and ectodermal origin is common, and it is challenging to set the diagnosis because the phenotype varies a lot between patients. Diagnostic tools like autoantibodies against type 1 interferons and against targeted tissues in the syndrome have eased the diagnostic work-up, as have mutational analysis of the causative gene. We will herein describe the clinical manifestation of the syndrome, the autoantibodies that correlate to the different symptoms, and advised treatment regimes.

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Authors and Affiliations

  1. KG Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway

    Anette S. B. Wolff, Bergithe E. Oftedal & Eystein S. Husebye

  2. Department of Clinical Science, University of Bergen, Bergen, Norway

    Anette S. B. Wolff, Bergithe E. Oftedal & Eystein S. Husebye

  3. Department of Medicine, Haukeland University Hospital, Bergen, Norway

    Eystein S. Husebye

  4. Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden

    Eystein S. Husebye

Authors
  1. Anette S. B. Wolff
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  2. Bergithe E. Oftedal
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  3. Eystein S. Husebye
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Corresponding author

Correspondence to Eystein S. Husebye .

Editor information

Editors and Affiliations

  1. Neuroendocrine Unit, University of Naples Federico II Neuroendocrine Unit, Naples, Italy

    Annamaria Colao

  2. Dept. Experimental Medicine, University of L'Aquila Dept. Experimental Medicine, L'Aquila, Italy

    Marie-Lise Jaffrain-Rea

  3. Department of Endocrinology, Centre Hospitalier Universitaire de Lièg Department of Endocrinology, Liège, Belgium

    Albert Beckers

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Wolff, A.S.B., Oftedal, B.E., Husebye, E.S. (2019). The Natural History of APS1. In: Colao, A., Jaffrain-Rea, ML., Beckers, A. (eds) Polyendocrine Disorders and Endocrine Neoplastic Syndromes. Endocrinology. Springer, Cham. https://doi.org/10.1007/978-3-319-73082-0_2-1

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  • DOI: https://doi.org/10.1007/978-3-319-73082-0_2-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-73082-0

  • Online ISBN: 978-3-319-73082-0

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