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

Abstract:

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...

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Publisher copy:
10.1038/ng1600

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Journal:
Nature genetics
Volume:
37
Issue:
8
Pages:
820-828
Publication date:
2005-08-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:294b2965-4d51-4d2d-9500-c170d8f1ebbd
Source identifiers:
94159
Local pid:
pubs:94159

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