Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Overview

Journal Front Pediatr

Specialty Pediatrics

Date 2021 Nov 18

PMID 34790633

Citations 29

Authors

Elise M N Ferre

Monica M Schmitt

Michail S Lionakis

Affiliations

Soon will be listed here.

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease caused by loss-of-function mutations in the autoimmune regulator () gene. AIRE deficiency impairs immune tolerance in the thymus and results in the peripheral escape of self-reactive T lymphocytes and the generation of several cytokine- and tissue antigen-targeted autoantibodies. APECED features a classic triad of characteristic clinical manifestations consisting of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenal insufficiency (Addison's disease). In addition, APECED patients develop several non-endocrine autoimmune manifestations with variable frequencies, whose recognition by pediatricians should facilitate an earlier diagnosis and allow for the prompt implementation of targeted screening, preventive, and therapeutic strategies. This review summarizes our current understanding of the genetic, immunological, clinical, diagnostic, and treatment features of APECED.

Citing Articles

Renal disorders in Autoimmune Polyendocrinopathy Candidiasis Ectodermal dystrophy (APECED): a systematic review.

Shafiei M, Hosseini S, Ghadimi S, Mirzaee M, Keikhah M, Ardalan N BMC Pediatr. 2025; 25(1):139.

PMID: 40000975 PMC: 11863426. DOI: 10.1186/s12887-025-05458-2.

Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report.

Silani M, Simonetta E, Gramegna A, De Angelis A, Blasi F, Aliberti S BMC Pulm Med. 2024; 24(1):543.

PMID: 39478519 PMC: 11526547. DOI: 10.1186/s12890-024-03149-9.

Thymic inborn errors of immunity.

Pala F, Notarangelo L, Lionakis M J Allergy Clin Immunol. 2024; 155(2):368-376.

PMID: 39428079 PMC: 11805638. DOI: 10.1016/j.jaci.2024.10.009.

The multiple faces of autoimmune Addison's disease in children.

Capalbo D, Esposito A, Gaeta V, Lorello P, Vasaturo S, Di Mase R Front Endocrinol (Lausanne). 2024; 15:1411774.

PMID: 39351530 PMC: 11439687. DOI: 10.3389/fendo.2024.1411774.

Reduction in mucosal-associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN-γ concentration.

Hetemaki I, Sarkkinen J, Wong H, Heikkila N, Laakso S, Miettinen S Eur J Immunol. 2024; 54(12):e2451189.

PMID: 39292205 PMC: 11628920. DOI: 10.1002/eji.202451189.

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