Ann Pediatr Endocrinol Metab.  2019 Dec;24(4):248-252. 10.6065/apem.2019.24.4.248.

A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1

• Suh J
• Choi HS
• Kwon A
• Chae HW
• Lee JS
• Kim HS

• KMID: 2468727
• DOI: http://doi.org/10.6065/apem.2019.24.4.248

Abstract

Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom triad in APS-1 comprises chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Various autoimmune diseases and ectodermal abnormalities are also commonly associated with the syndrome. The treatment of APS-1 includes hormone replacement and symptom control. It is important to monitor such patients for clinical manifestations of their disease through regular follow-up. We report the case of a 10-year-old Korean girl with APS-1 due to a novel compound heterozygous mutation of the AIRE gene. This patient's main clinical manifestations were adrenal insufficiency and chronic mucocutaneous candidiasis. The patient had a previously known pathogenic variant of c.1513delG (p.Ala505ProfsTer16), and a newly discovered variant of c.1360dupC (p.His454ProfsTer50).

Keyword

Autoimmune polyendocrine syndrome type 1; Adrenal insufficiency; Autoimmune diseases

MeSH Terms

Adrenal Insufficiency
Autoimmune Diseases
Candidiasis, Chronic Mucocutaneous
Child
Ectoderm
Female
Follow-Up Studies
Humans
Hypoparathyroidism
Polyendocrinopathies, Autoimmune

Figure

• 

  Fig. 1. Direct sequencing of the patient's AIRE gene.

Reference

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