dc.contributor.author | Péron, Sophie | |
dc.contributor.author | Pan-Hammarström, Qiang | |
dc.contributor.author | Imai, Kohsuke | |
dc.contributor.author | Du, Likun | |
dc.contributor.author | Taubenheim, Nadine | |
dc.contributor.author | Sanal, Ozden | |
dc.contributor.author | Marodi, Laszlo | |
dc.contributor.author | Bergelin-Besançon, Anne | |
dc.contributor.author | Benkerrou, Malika | |
dc.contributor.author | de Villartay, Jean-Pierre | |
dc.contributor.author | Fischer, Alain | |
dc.contributor.author | Revy, Patrick | |
dc.contributor.author | Durandy, Anne | |
dc.date.accessioned | 2019-12-10T10:42:30Z | |
dc.date.available | 2019-12-10T10:42:30Z | |
dc.date.issued | 2007 | |
dc.identifier.issn | 0022-1007 | |
dc.identifier.uri | https://doi.org/10.1084/jem.20070087 | |
dc.identifier.uri | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2118580/ | |
dc.identifier.uri | http://hdl.handle.net/11655/14238 | |
dc.description.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. | |
dc.relation.isversionof | 10.1084/jem.20070087 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | A Primary Immunodeficiency Characterized By Defective Immunoglobulin Class Switch Recombination And Impaired Dna Repair | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | The Journal of Experimental Medicine | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 204 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 1207 | |
dc.identifier.endpage | 1216 | |
dc.description.index | PubMed | |
dc.description.index | WoS | |
dc.description.index | Scopus | |