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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Bibliografische gegevens
Gepubliceerd in:JCI Insight
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 2016
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Research Article
Online toegang: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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