TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes
M Martinez-Gallo, L Radigan, MB Almejún… - Journal of allergy and …, 2013 - Elsevier
BACKGROUND: Mutations in the gene coding for the transmembrane activator and calcium-
modulating cyclophilin ligand interactor (TACI) are found in 8% to 10% of subjects with
common variable immunodeficiency (CVID). Although heterozygous mutations may coincide
with immunodeficiency in a few families, most mutation-bearing relatives are not
hypogammaglobulinemic. Thus, the role of TACI mutations in producing the immune defect
remains unclear. OBJECTIVE: This study examined the expression and function of TACI …
modulating cyclophilin ligand interactor (TACI) are found in 8% to 10% of subjects with
common variable immunodeficiency (CVID). Although heterozygous mutations may coincide
with immunodeficiency in a few families, most mutation-bearing relatives are not
hypogammaglobulinemic. Thus, the role of TACI mutations in producing the immune defect
remains unclear. OBJECTIVE: This study examined the expression and function of TACI …