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A primary immunodef...
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair
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Peron, S (författare)
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- Pan-Hammarstrom, Q (författare)
- Karolinska Institutet
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Imai, K (författare)
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- Du, LK (författare)
- Karolinska Institutet
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Taubenheim, N (författare)
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Sanal, O (författare)
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Marodi, L (författare)
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Bergelin-Besancon, A (författare)
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Benkerrou, M (författare)
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de Villartay, JP (författare)
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Fischer, A (författare)
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Revy, P (författare)
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Durandy, A (författare)
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(creator_code:org_t)
- 2007-05-07
- 2007
- Engelska.
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Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 0022-1007 .- 1540-9538. ; 204:5, s. 1207-1216
- Relaterad länk:
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http://jem.rupress.o...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodeficiencies, characterized by a lack of switched isotype (IgG, IgA, or IgE) production, variably associated with abnormal somatic hypermutation (SHM). Deficiencies in CD40 ligand, CD40, activation-induced cytidine deaminase, and uracil-N-glycosylase may account for this syndrome. We previously described another Ig CSR deficiency condition, characterized by a defect in CSR downstream of the generation of double-stranded DNA breaks in switch (S) μ regions. Further analysis performed with the cells of five affected patients showed that the Ig CSR deficiency was associated with an abnormal formation of the S junctions characterized by microhomology and with increased cell radiosensitivity. In addition, SHM was skewed toward transitions at G/C residues. Overall, these findings suggest that a unique Ig CSR deficiency phenotype could be related to an as-yet-uncharacterized defect in a DNA repair pathway involved in both CSR and SHM events.
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Till lärosätets databas
- Av författaren/redakt...
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Peron, S
-
Pan-Hammarstrom, ...
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Imai, K
-
Du, LK
-
Taubenheim, N
-
Sanal, O
-
visa fler...
-
Marodi, L
-
Bergelin-Besanco ...
-
Benkerrou, M
-
de Villartay, JP
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Fischer, A
-
Revy, P
-
Durandy, A
-
visa färre...
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The Journal of e ...
- Av lärosätet
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Karolinska Institutet