Article
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
The Journal of experimental medicine - 11 Mar 2013
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
Abstract excerpt
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 gene sequencing, we identified two distinct homozygous loss-of-function mutations in the interleukin-21 receptor...
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