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

Internet

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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