Article
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.
Nature genetics - 1 Aug 2005
Salzer U, Chapel H M, Webster A D B, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter H H, Rockstroh J K, Schneider P, Schäffer A A, Hammarström L, Grimbacher B
Abstract excerpt
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...
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