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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:J Clin Immunol
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer US 2015
Onderwerpen:
Original Research
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4718942/
https://ncbi.nlm.nih.gov/pubmed/26604104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-015-0214-9
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items