Article
TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes.
The Journal of allergy and clinical immunology - 1 Feb 2013
Martinez-Gallo Monica, Radigan Lin, Almejún María Belén, Martínez-Pomar Natalia, Matamoros Núria, Cunningham-Rundles Charlotte
Abstract excerpt
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...
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