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Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Inheritance: Model for Autoaggression

  • Conference paper
Immune-Mediated Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 601))

Abstract

Patients with the rare X-linked syndrome, immune dysregulation, polyendocrinopathy, enteropathy (IPEX) may present early in life with type I diabetes, hyperthyroidism, chronic enteropathy, villous atrophy, dermatitis, autoimmune hemolytic anemia, and antibody- induced neutropenia and thrombocytopenia. Of the reported families with IPEX, most affected boys died before the age of 3 years of malabsorbtion, failure to thrive, infections, or other complications. Characteristic findings at autopsy include lymphocytic infiltrates affecting the lungs, endocrine organs, such as pancreas and thyroid and skin, and increased lymphoid elements in lymph nodes and spleen. Although symptomatic therapy with immunosuppressive drugs provides some beneficial effects, the only curative treatment is hematopoietic stem cell transplantation.

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Authors and Affiliations

  1. Division of Immunology, University of Washington and Children’s Hospital and Regional Medical Center, Seattle, WA, USA

    Hans D. Ochs & Troy R. Torgerson

Authors
  1. Hans D. Ochs
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  2. Troy R. Torgerson
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Correspondence to Hans D. Ochs .

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Editors and Affiliations

  1. Division of Clinical Immunopathology, 5725 Children’s Hospital of Pittsburgh, Main Tower, 200 Lothrop Street, Pittsburgh, PA, 15213, USA

    Michael R. Shurin (Associate Professor of Pathology and Immunology, Associate Director) (Associate Professor of Pathology and Immunology, Associate Director)

  2. Institute for Continuing Medical Education, Russian Association of Pediatric Allergology and Immunology, Clinical and Research Center of Allergy and Immunology, Ostrovitianova St., Bldg. 6, Moscow, 117513, Russia

    Yuri S. Smolkin (Professor of Immunology, Vise-President, Director) (Professor of Immunology, Vise-President, Director)

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Ochs, H.D., Torgerson, T.R. (2007). Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Inheritance: Model for Autoaggression. In: Shurin, M.R., Smolkin, Y.S. (eds) Immune-Mediated Diseases. Advances in Experimental Medicine and Biology, vol 601. Springer, New York, NY. https://doi.org/10.1007/978-0-387-72005-0_3

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