The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency
JJ Lee, HH Jabara, L Garibyan, I Rauter… - Journal of Allergy and …, 2010 - Elsevier
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 TACI
mutant C104R. OBJECTIVE: We sought to define the consequence of the C76R mutation on …
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 TACI
mutant C104R. OBJECTIVE: We sought to define the consequence of the C76R mutation on …