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Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus

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

Description

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 identified a non-consanguineous family, who carry the C104R (c.310T>C) mutation of the Transmembrane Activator Calcium-modulator and cyclophilin ligand Interactor (TACI, TNFRSF13B) gene. Variants in...[Show more]

CollectionsANU Research Publications
Date published: 2017-10-20
Type: Journal article
URI: http://hdl.handle.net/1885/155698
Source: Clinical and Translational Immunology
DOI: 10.1038/cti.2017.41
Access Rights: Open Access

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