A novel compound heterozygous mutation of the gene in a patient with autoimmune polyendocrine syndrome type 1
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 candidia...
| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
Korean Society of Pediatric Endocrinology
2019-12-01
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| Colecção: | Annals of Pediatric Endocrinology & Metabolism |
| Assuntos: | |
| Acesso em linha: | http://e-apem.org/upload/pdf/apem-2019-24-4-248.pdf |