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The Spectrum of Autoimmune Enteropathy

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Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

Abstract

Autoimmune enteropathy (AIE) is a rare, immune-mediated disease presenting with protracted diarrhea usually in the first months of life. The term AIE nowadays includes a spectrum of disorders ranging from mild, isolated gastrointestinal involvement to severe systemic disease. A humoral immune response that takes place in the gut with the presence of anti-enterocyte antibodies in nearly half of the cases is implicated in the pathogenesis of the disease and necessitates dietary modification often in the form of parenteral nutrition and long-term immunosuppression. immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome are systemic forms of AIE and the disease-causing mutations have been identified in the FOXP3 and AIRE genes, respectively. The great variability of the clinical expression in both syndromes makes the treatment challenging and creates the need for new therapies that will lead to permanent remission.

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Authors and Affiliations

  1. Pediatric Liver, GI and Nutrition Centre, King’s College Hospital, SE59RS, London, UK

    Natalia Nedelkopoulou

  2. Pediatric Immunology and Rheumatology Referral Centre, First Dept of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Evangelia Farmaki

  3. Institute of Liver Studies, King’s College Hospital, SE59RS, London, UK

    Maesha Deheragoda

  4. Pediatric Liver, GI and Nutrition Centre, King’s College Hospital, Denmark Hill, SE59RS, London, UK

    Babu Vadamalayan

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  4. Babu Vadamalayan
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Correspondence to Babu Vadamalayan .

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Editors and Affiliations

  1. Department of Pediatrics, University of Chicago, Chicago, Illinois, USA

    Stefano Guandalini

  2. Clinical Director Child Health King’s College Hospital, Professor and Director Pediatric Liver, GI and Nutrition Center, London, United Kingdom

    Anil Dhawan

  3. Department of Pediatrics, Hebrew University Hadassah Hospital, Jerusalem, Israel

    David Branski

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© 2016 Springer International Publishing Switzerland

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Nedelkopoulou, N., Farmaki, E., Deheragoda, M., Vadamalayan, B. (2016). The Spectrum of Autoimmune Enteropathy. In: Guandalini, S., Dhawan, A., Branski, D. (eds) Textbook of Pediatric Gastroenterology, Hepatology and Nutrition. Springer, Cham. https://doi.org/10.1007/978-3-319-17169-2_2

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  • DOI: https://doi.org/10.1007/978-3-319-17169-2_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-17168-5

  • Online ISBN: 978-3-319-17169-2

  • eBook Packages: MedicineMedicine (R0)

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