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Träfflista för sökning "WFRF:(Sanal O) srt2:(2005-2009)"

Search: WFRF:(Sanal O) > (2005-2009)

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1.	Peron, S, et al. (author) A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair 2007 In: The Journal of experimental medicine. - : Rockefeller University Press. - 0022-1007 .- 1540-9538. ; 204:5, s. 1207-1216 Journal article (peer-reviewed)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.
2.	Roos, D, et al. (author) Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase 2006 In: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 27:12, s. 1218-1229 Journal article (peer-reviewed)
3.	Woellner, C, et al. (author) Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job's syndrome/STAT3 deficiency 2008 In: CLINICAL AND EXPERIMENTAL IMMUNOLOGY. - 0009-9104. ; 154, s. 154-155 Conference paper (other academic/artistic)

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Type of publication: journal article (2); conference paper (1)

Type of content: peer-reviewed (2); other academic/artistic (1)

Author/Editor: Sanal, O (3); Marodi, L (2); Fischer, A. (1); Hammarstrom, L (1); Matamoros, N (1); Pan-Hammarstrom, Q (1); show more...; Plebani, A (1); Du, LK (1); Khan, S (1); Imai, K (1); Yeganeh, M (1); Espanol, T (1); Ahlin, A (1); Palmblad, J (1); Roos, D (1); Franco, JL (1); Puck, JM (1); Niehues, T (1); Durandy, A (1); Pignata, C (1); Moilanen, JS (1); Dekker, J (1); Gennery, AR (1); Kilic, SS (1); Bacchetta, R (1); Sanchez, B. (1); Holland, SM (1); Baumann, U (1); de Villartay, JP (1); Ehl, S (1); Grimbacher, B (1); Cancrini, C (1); BREBOROWICZ, A (1); Litzman, J. (1); Garty, BZ (1); Jolles, S. (1); Abinun, M (1); de Boer, M (1); Davies, EG (1); Junker, A (1); Gertz, EM (1); Arkwright, PD (1); Eren, E. (1); Peron, S (1); Taubenheim, N (1); Bergelin-Besancon, A (1); Benkerrou, M (1); Revy, P (1); Koker, MY (1); Singh-Gupta, V (1); show less...

University: Karolinska Institutet (3)

Language: English (3)

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