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.
Artículo
| 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).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedades Autoinmunes
/
Candidiasis Mucocutánea Crónica
/
Estudios de Seguimiento
/
Poliendocrinopatías Autoinmunes
/
Insuficiencia Suprarrenal
/
Ectodermo
/
Hipoparatiroidismo
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
Límite:
Niño
/
Femenino
/
Humanos
Revista:
Annals of Pediatric Endocrinology & Metabolism
Año:
2019
Tipo del documento:
Artículo
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