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Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus
Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies where monogenetic causes account for only a fraction of cases. On this evidence, CVID is potentially polygenic and epistatic although there are, as yet, no examples to support this hypothesis. We have identif...
Autores principales: | Ameratunga, Rohan, Koopmans, Wikke, Woon, See-Tarn, Leung, Euphemia, Lehnert, Klaus, Slade, Charlotte A, Tempany, Jessica C, Enders, Anselm, Steele, Richard, Browett, Peter, Hodgkin, Philip D, Bryant, Vanessa L |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5671988/ https://www.ncbi.nlm.nih.gov/pubmed/29114388 http://dx.doi.org/10.1038/cti.2017.41 |
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