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B-cell activating f...
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans
- Article/chapterEnglish2009
Publisher, publication year, extent ...
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2009-08-18
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Proceedings of the National Academy of Sciences,2009
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:119257859
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http://kipublications.ki.se/Default.aspx?queryparsed=id:119257859URI
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https://doi.org/10.1073/pnas.0903543106DOI
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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B-cell survival depends on signals induced by B-cell activating factor (BAFF) binding to its receptor (BAFF-R). In mice, mutations in BAFF or BAFF-R cause B-cell lymphopenia and antibody deficiency. Analyzing BAFF-R expression and BAFF-binding to B cells in common variable immunodeficiency (CVID) patients, we identified two siblings carrying a homozygous deletion in the BAFF-R gene. Removing most of the BAFF-R transmembrane part, the deletion precludes BAFF-R expression. Without BAFF-R, B-cell development is arrested at the stage of transitional B cells and the numbers of all subsequent B-cell stages are severely reduced. Both siblings have lower IgG and IgM serum levels but, unlike most CVID patients, normal IgA concentrations. They also did not mount a T-independent immune response against pneumococcal cell wall polysaccharides but only one BAFF-R-deficient sibling developed recurrent infections. Therefore, deletion of the BAFF-R gene in humans causes a characteristic immunological phenotype but it does not necessarily lead to a clinically manifest immunodeficiency.
Added entries (persons, corporate bodies, meetings, titles ...)
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Salzer, U
(author)
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Rizzi, M
(author)
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Fischer, B
(author)
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Gutenberger, S
(author)
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Bohm, J
(author)
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Kienzler, AK
(author)
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Pan-Hammarstrom, QKarolinska Institutet
(author)
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Hammarstrom, LKarolinska Institutet
(author)
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Rakhmanov, M
(author)
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Schlesier, M
(author)
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Grimbacher, B
(author)
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Peter, HH
(author)
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Eibel, H
(author)
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Karolinska Institutet
(creator_code:org_t)
Related titles
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In:Proceedings of the National Academy of Sciences of the United States of America: Proceedings of the National Academy of Sciences106:33, s. 13945-139501091-6490
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In:Proceedings of the National Academy of Sciences: Proceedings of the National Academy of Sciences106:33, s. 13945-139500027-8424
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Warnatz, K
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Salzer, U
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Rizzi, M
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Fischer, B
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Gutenberger, S
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Bohm, J
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Kienzler, AK
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Pan-Hammarstrom, ...
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Hammarstrom, L
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Rakhmanov, M
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Schlesier, M
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Grimbacher, B
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Peter, HH
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Eibel, H
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Karolinska Institutet