A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
10.6065/apem.2019.24.4.248
- Author:
Junghwan SUH
1
;
Han Saem CHOI
;
Ahreum KWON
;
Hyun Wook CHAE
;
Jin Sung LEE
;
Ho Seong KIM
Author Information
1. Department of Pediatrics, Severance Children's Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Korea. kimho@yuhs.ac
- Publication Type:Case Report
- Keywords:
Autoimmune polyendocrine syndrome type 1;
Adrenal insufficiency;
Autoimmune diseases
- MeSH:
Adrenal Insufficiency;
Autoimmune Diseases;
Candidiasis, Chronic Mucocutaneous;
Child;
Ectoderm;
Female;
Follow-Up Studies;
Humans;
Hypoparathyroidism;
Polyendocrinopathies, Autoimmune
- From:Annals of Pediatric Endocrinology & Metabolism
2019;24(4):248-252
- CountryRepublic of Korea
- Language:English
-
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).
