A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood, but the clinical picture is highly variable. AIRE is crucial for...

Descripción completa

Detalles Bibliográficos
Autores principales: Oftedal, Bergithe Eikeland, Berger, Amund Holte, Bruserud, Øyvind, Goldfarb, Yael, Sulen, Andre, Breivik, Lars, Hellesen, Alexander, Ben-Dor, Shifra, Haffner-Krausz, Rebecca, Knappskog, Per M., Johansson, Stefan, Wolff, Anette S.B., Bratland, Eirik, Abramson, Jakub, Husebye, Eystein Sverre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617782/
https://www.ncbi.nlm.nih.gov/pubmed/37909333
http://dx.doi.org/10.1172/JCI169704

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617782/
https://www.ncbi.nlm.nih.gov/pubmed/37909333
http://dx.doi.org/10.1172/JCI169704

Ejemplares similares