APECED and the place of AIRE in the puzzle of the immune network associated with autoimmunity

Author:

Aytekin Elif Soyak1ORCID,Cagdas Deniz2ORCID

Affiliation:

1. Pediatric Allergy and Immunology, Department of Pediatrics SBU Dr. Sami Ulus Children Hospital Ankara Turkey

2. Division of Pediatric Immunology, Department of Pediatrics, Ihsan Dogramaci Children`s Hospital, Institute of Child Health Hacettepe University Medical School Ankara Turkey

Abstract

AbstractIn the last 20 years, discoveries about the autoimmune regulator (AIRE) protein and its critical role in immune tolerance have provided fundamental insights into understanding the molecular basis of autoimmunity. This review provides a comprehensive overview of the effect of AIRE on immunological tolerance and the characteristics of autoimmune diseases in Autoimmune Polyendocrinopathy‐Candidiasis‐Ectodermal Dystrophy (APECED), which is caused by biallelic AIRE mutations. A better understanding of the immunological mechanisms of AIRE deficiency may enlighten immune tolerance mechanisms and new diagnostic and treatment strategies for autoimmune diseases. Considering that not all clinical features of APECED are present in a given follow‐up period, the diagnosis is not easy in a patient at the first visit. Longer follow‐up and a multidisciplinary approach are essential for diagnosis. It is challenging to prevent endocrine and other organ damage compared with other diseases associated with multiple autoimmunities, such as FOXP3, LRBA, and CTLA4 deficiencies. Unfortunately, no curative therapy like haematopoietic stem cell transplantation or specific immunomodulation is present that is successful in the treatment.

Publisher

Wiley

Subject

Immunology,General Medicine

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective;The Journal of Allergy and Clinical Immunology: In Practice;2023-10

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