Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome

There are more than 7000 described rare diseases, most lacking specific treatment. Autosomal-dominant hyper-IgE syndrome (AD-HIES, also known as Job’s syndrome) is caused by mutations in STAT3. These patients present with immunodeficiency accompanied by severe nonimmunological features, including sk...

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Veröffentlicht in:J Clin Invest
Hauptverfasser: Dmitrieva, Natalia I., Walts, Avram D., Nguyen, Dai Phuong, Grubb, Alex, Zhang, Xue, Wang, Xujing, Ping, Xianfeng, Jin, Hui, Yu, Zhen, Yu, Zu-Xi, Yang, Dan, Schwartzbeck, Robin, Dalgard, Clifton L., Kozel, Beth A., Levin, Mark D., Knutsen, Russell H., Liu, Delong, Milner, Joshua D., López, Diego B., O’Connell, Michael P., Lee, Chyi-Chia Richard, Myles, Ian A., Hsu, Amy P., Freeman, Alexandra F., Holland, Steven M., Chen, Guibin, Boehm, Manfred
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2020
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7410079/
https://ncbi.nlm.nih.gov/pubmed/32369445
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI135490
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