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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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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Rockefeller University Press
2013
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| Assuntos: | |
| 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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