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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
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Warnatz, K (författare)
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Salzer, U (författare)
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Rizzi, M (författare)
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Fischer, B (författare)
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Gutenberger, S (författare)
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Bohm, J (författare)
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Kienzler, AK (författare)
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- Pan-Hammarstrom, Q (författare)
- Karolinska Institutet
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- Hammarstrom, L (författare)
- Karolinska Institutet
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Rakhmanov, M (författare)
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Schlesier, M (författare)
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Grimbacher, B (författare)
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Peter, HH (författare)
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Eibel, H (författare)
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(creator_code:org_t)
- 2009-08-18
- 2009
- Engelska.
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 1091-6490. ; 106:33, s. 13945-13950
- Relaterad länk:
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http://www.pnas.org/...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
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Till lärosätets databas
- Av författaren/redakt...
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Warnatz, K
-
Salzer, U
-
Rizzi, M
-
Fischer, B
-
Gutenberger, S
-
Bohm, J
-
visa fler...
-
Kienzler, AK
-
Pan-Hammarstrom, ...
-
Hammarstrom, L
-
Rakhmanov, M
-
Schlesier, M
-
Grimbacher, B
-
Peter, HH
-
Eibel, H
-
visa färre...
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Proceedings of t ...
- Av lärosätet
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Karolinska Institutet