Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

Primary immunodeficiencies (PIDs) represent exquisite models for studying mechanisms of human host defense. In this study, we report on two unrelated kindreds, with two patients each, who had cryptosporidial infections associated with chronic cholangitis and liver disease. Using exome and candidate...

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Autors principals: Kotlarz, Daniel, Ziętara, Natalia, Uzel, Gulbu, Weidemann, Thomas, Braun, Christian J., Diestelhorst, Jana, Krawitz, Peter M., Robinson, Peter N., Hecht, Jochen, Puchałka, Jacek, Gertz, E. Michael, Schäffer, Alejandro A., Lawrence, Monica G., Kardava, Lela, Pfeifer, Dietmar, Baumann, Ulrich, Pfister, Eva-Doreen, Hanson, Eric P., Schambach, Axel, Jacobs, Roland, Kreipe, Hans, Moir, Susan, Milner, Joshua D., Schwille, Petra, Mundlos, Stefan, Klein, Christoph
Format: Artigo
Idioma:Inglês
Publicat: The Rockefeller University Press 2013
Matèries:
Brief Definitive Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3600901/
https://ncbi.nlm.nih.gov/pubmed/23440042
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20111229
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