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Autoantibodies in Autoimmune Polyendocrine Syndrome

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Polyendocrine Disorders and Endocrine Neoplastic Syndromes

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

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Abstract

Autoimmune polyendocrine syndromes are a group of diseases characterized by numerous autoimmune disorders, circulating autoantibodies, and lymphocytic infiltration of the affected organs which, in turn, may lead to impaired function.

These syndromes, which differ in their immunologic features and clinical presentation, include monogenic forms as autoimmune polyendocrine syndromes type 1 and X-linked immunodysregulation polyendocrinopathy enteropathy or poligenic complex forms as autoimmune polyendocrine syndrome type 2.

In the past years, new autoantibody targets were identified and associated with distinct diseases and their manifestations: systemic autoantibodies to certain cytokines were found to be highly prevalent and specific to autoimmune polyendocrine syndrome type 1, whereas organ-specific antibodies, a distinctive feature of autoimmune polyendocrine syndrome type 2, were proved useful to confirm the autoimmune pathogenesis and predict the onset of additional clinical manifestations.

Diagnosis of autoimmune polyendocrine syndromes type 1 and X-linked immunodysregulation polyendocrinopathy enteropathy is based on clinical presentation and confirmed by gene sequencing; however, a broadly available test to detect autoantibodies would be a useful and cost-effective tool for first-line screening before genetic testing.

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Authors and Affiliations

  1. Division of Endocrinology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

    Isabella Lupi & Alessandro Brancatella

  2. Division of Immunology, Department of Pathology, The Johns Hopkins School of Medicine, Baltimore, MD, USA

    Patrizio Caturegli

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  1. Isabella Lupi
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  2. Alessandro Brancatella
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  3. Patrizio Caturegli
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Correspondence to Isabella Lupi .

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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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Lupi, I., Brancatella, A., Caturegli, P. (2019). Autoantibodies in Autoimmune Polyendocrine Syndrome. 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_4-1

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