The APS Type 1 Foundation is very excited to share the first publication from the NIH’s Natural History Study on APS Type 1 (APECED).
“Redefined clinical features and diagnostic criteria in autoimmune Polyendocrinopathy-candidiasis-ectodermal dystrophy”
This is the NIH’s first APECED manuscript and has been accepted in the prestigious Journal of Clinical Investigation (JCI) Insight. This is the official journal of the American Society for Clinical Investigation(ASCI) and will provide great visibility to the manuscript and, importantly, to APS Type 1.
We congratulate Elise and Dr Lionakis for their commitment and dedication to this disorder, their tireless support for all of us, and the potential life changing results of this study. I also congratulate all of you that spent days enduring a lot of blood draws and tests to support the results of this study.
As noted in the publication…greater awareness of the new manifestations and diagnostic criteria would accelerate earlier diagnosis by 4 years and possibly prevent life-threatening endocrine complications. This should resonate with all of us that went through many challenging years of not knowing what was wrong with our loved ones and give hope us hope for the future.
Please share with your physician community…the link to the article is also attached below. An amazing day for all those challenged by APS Type 1. THANK YOU ELISE AND DR LIONAKIS!!!!!
President, APS Type 1 Foundation
It is available on at JCI Insights website: http://insight.jci.org/articles/view/88782 and as a PDF here.