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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
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