A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
Annals of Pediatric Endocrinology & Metabolism
;
: 248-252, 2019.
Article
| WPRIM
| ID: wpr-785405
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).
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Autoimmune Diseases
/
Candidiasis, Chronic Mucocutaneous
/
Follow-Up Studies
/
Polyendocrinopathies, Autoimmune
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Adrenal Insufficiency
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Ectoderm
/
Hypoparathyroidism
Type of study:
Observational study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2019
Type:
Article
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