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Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

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Abstract

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. This review focuses on the clinical and immunological features of APECED, summarizes the current knowledge on the function of AIRE and discusses the importance of autoantibodies in disease diagnosis and prognosis. Additionally, we review the outcome of recent immunomodulatory treatments in APECED patients.

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Abbreviations

AD:

Addison’s disease

AIH:

Autoimmune hepatitis

APECED:

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

APS1:

Autoimmune polyendocrine syndrome, type 1

CMC:

Chronic mucocutaneous candidiasis

EE:

Enteroendocrine cells

ELISA:

Enzyme-linked immunosorbent assay

GID:

Gastrointestinal dysfunction

HP:

Hypopathyroidism

IFN:

Interferon

IL:

Interleukin

ILD:

Interstitial lung disease

LIPS:

Luciferase based immunoprecipitation system

mTEC:

Thymic medullary epithelial cell

T1D:

Type 1 diabetes

TIN:

Tubulo-interstitial nephritis

TSA:

Tissue-specific antigens

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Acknowledgments

This work was supported by Estonian Research Council grant IUT2-2, Center of Excellence of Translational Medicine of University of Tartu, European Regional Development Fund, and Archimedes Foundation.

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    Kai Kisand & Pärt Peterson

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Kisand, K., Peterson, P. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy. J Clin Immunol 35, 463–478 (2015). https://doi.org/10.1007/s10875-015-0176-y

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