Article
The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency.
The Journal of allergy and clinical immunology - 1 Dec 2010
Lee John J, Jabara Haifa H, Garibyan Lilit, Rauter Ingrid, Sannikova Tatyana, Dillon Stacey R, Bram Richard, Geha Raif S
Abstract excerpt
BACKGROUND: TNFRSF13B, which encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), is mutated in 10% of patients with common variable immunodeficiency. One of the 2 most common TACI mutations in common variable immunodeficiency, C104R, abolishes ligand binding and is found predominantly in the heterozygous state. The murine TACI mutant C76R is the equivalent of the human...
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