The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

PURPOSE: Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibility to recurrent Candida infections, resulting in t...

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Detalles Bibliográficos
Autores principales: Depner, Mark, Fuchs, Sebastian, Raabe, Jan, Frede, Natalie, Glocker, Cristina, Doffinger, Rainer, Gkrania-Klotsas, Effrossyni, Kumararatne, Dinakantha, Atkinson, T. Prescott, Schroeder, Harry W., Niehues, Tim, Dückers, Gregor, Stray-Pedersen, Asbjørg, Baumann, Ulrich, Schmidt, Reinhold, Franco, Jose L., Orrego, Julio, Ben-Shoshan, Moshe, McCusker, Christine, Jacob, Cristina Miuki Abe, Carneiro-Sampaio, Magda, Devlin, Lisa A., Edgar, J. David M., Henderson, Paul, Russell, Richard K., Skytte, Anne-Bine, Seneviratne, Suranjith L., Wanders, Jennifer, Stauss, Hans, Meyts, Isabelle, Moens, Leen, Jesenak, Milos, Kobbe, Robin, Borte, Stephan, Borte, Michael, Wright, Dowain A., Hagin, David, Torgerson, Troy R., Grimbacher, Bodo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4718942/
https://www.ncbi.nlm.nih.gov/pubmed/26604104
http://dx.doi.org/10.1007/s10875-015-0214-9

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