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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2013
Assuntos:
Brief Definitive Report
Acesso em linha: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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