11. |
- Marodi, L
(författare)
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Fifteen Years of the J Project
- 2019
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Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 39:4, s. 363-369
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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12. |
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13. |
- Peron, S, et al.
(författare)
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A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair
- 2007
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Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 0022-1007 .- 1540-9538. ; 204:5, s. 1207-1216
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Tidskriftsartikel (refereegranskat)abstract
- 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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14. |
- Sediva, A, et al.
(författare)
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Europe Immunoglobulin Map
- 2014
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Ingår i: JOURNAL OF CLINICAL IMMUNOLOGY. - : Oxford University Press (OUP). - 0271-9142. ; 178178 Suppl 1, s. 141-143
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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