Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans

@article{Salzer2005MutationsIT,
  title={Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans},
  author={Ulrich Salzer and Helen M. Chapel and Anthony David B Webster and Qiang Pan-Hammarstr{\"o}m and Annette Schmitt-Graeff and Michael Schlesier and Hans Hartmut Peter and J. K. Rockstroh and Polin Schneider and Alejandro A. Sch{\"a}ffer and Lennart Hammarstr{\"o}m and Bodo Grimbacher},
  journal={Nature Genetics},
  year={2005},
  volume={37},
  pages={820-828}
}
The functional interaction of BAFF and APRIL with TNF receptor superfamily members BAFFR, TACI and BCMA is crucial for development and maintenance of humoral immunity in mice and humans. Using a candidate gene approach, we identified homozygous and heterozygous mutations in TNFRSF13B, encoding TACI, in 13 individuals with common variable immunodeficiency. Homozygosity with respect to mutations causing the amino acid substitutions S144X and C104R abrogated APRIL binding and resulted in loss of… CONTINUE READING

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Identification of proteoglycans as APRIL-specific binding partners

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