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A novel compound heterozygous mutation of the AIRE 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...

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Detalles Bibliográficos
Autores principales:	Suh, Junghwan, Choi, Han Saem, Kwon, Ahreum, Chae, Hyun Wook, Lee, Jin-Sung, Kim, Ho-Seong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society of Pediatric Endocrinology 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944864/ https://www.ncbi.nlm.nih.gov/pubmed/31905445 http://dx.doi.org/10.6065/apem.2019.24.4.248

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