TACI is mutant in common variable immunodeficiency and IgA deficiency

  title={TACI is mutant in common variable immunodeficiency and IgA deficiency},
  author={Emanuela Castigli and Stephen A. Wilson and Lilit Garibyan and Rima A Rachid and Francisco J. Bonilla and Lynda Schneider and Raif S Geha},
  journal={Nature Genetics},
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 CVID had a single nucleotide insertion in the other TNFRSF13B allele. None of these… CONTINUE READING
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