Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroid...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Ferre, Elise M.N., Rose, Stacey R., Rosenzweig, Sergio D., Burbelo, Peter D., Romito, Kimberly R., Niemela, Julie E., Rosen, Lindsey B., Break, Timothy J., Gu, Wenjuan, Hunsberger, Sally, Browne, Sarah K., Hsu, Amy P., Rampertaap, Shakuntala, Swamydas, Muthulekha, Collar, Amanda L., Kong, Heidi H., Lee, Chyi-Chia Richard, Chascsa, David, Simcox, Thomas, Pham, Angela, Bondici, Anamaria, Natarajan, Mukil, Monsale, Joseph, Kleiner, David E., Quezado, Martha, Alevizos, Ilias, Moutsopoulos, Niki M., Yockey, Lynne, Frein, Cathleen, Soldatos, Ariane, Calvo, Katherine R., Adjemian, Jennifer, Similuk, Morgan N., Lang, David M., Stone, Kelly D., Uzel, Gulbu, Kopp, Jeffrey B., Bishop, Rachel J., Holland, Steven M., Olivier, Kenneth N., Fleisher, Thomas A., Heller, Theo, Winer, Karen K., Lionakis, Michail S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004733/
https://ncbi.nlm.nih.gov/pubmed/27588307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.88782
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