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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Clinical Investigation 2016
Ábhair:
Research Article
Rochtain Ar Líne: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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