Article
TACI is mutant in common variable immunodeficiency and IgA deficiency.
Nature genetics - 1 Aug 2005
Castigli Emanuela, Wilson Stephen A, Garibyan Lilit, Rachid Rima, Bonilla Francisco, Schneider Lynda, Geha Raif S
Abstract excerpt
The tumor necrosis factor receptor family member TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor) mediates isotype switching in B cells. We found that 4 of 19 unrelated individuals with common variable immunodeficiency (CVID) and 1 of 16 individuals with IgA deficiency (IgAD) had a missense mutation in one allele of TNFRSF13B (encoding TACI). One of the four individuals with...
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