Article
The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice.
The Journal of allergy and clinical immunology - 1 May 2011
Bacchelli Chiara, Buckland Karen F, Buckridge Sylvie, Salzer Ulrich, Schneider Pascal, Thrasher Adrian J, Gaspar H Bobby
Abstract excerpt
BACKGROUND: Mutations in TNFRSF13B, the gene encoding transmembrane activator and calcium modulator cyclophilin ligand interactor (TACI), are found in 10% of patients with common variable immunodeficiency. However, the most commonly detected mutation is the heterozygous change C104R, which is also found in 0.5% to 1% of healthy subjects. The contribution of the C104R mutation to the B-cell defects observed in...
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