A Primary Immunodeficiency Characterized By Defective Immunoglobulin Class Switch Recombination And Impaired Dna Repair
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Date
2007Author
Péron, Sophie
Pan-Hammarström, Qiang
Imai, Kohsuke
Du, Likun
Taubenheim, Nadine
Sanal, Ozden
Marodi, Laszlo
Bergelin-Besançon, Anne
Benkerrou, Malika
de Villartay, Jean-Pierre
Fischer, Alain
Revy, Patrick
Durandy, Anne
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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.
URI
https://doi.org/10.1084/jem.20070087https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2118580/
http://hdl.handle.net/11655/14238