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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2013
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600901/
https://www.ncbi.nlm.nih.gov/pubmed/23440042
http://dx.doi.org/10.1084/jem.20111229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3600901/
https://www.ncbi.nlm.nih.gov/pubmed/23440042
http://dx.doi.org/10.1084/jem.20111229

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