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) mu 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.
JournalThe Journal of experimental medicine
J Exp Med (0022-1007)
The Journal of experimental medicine
Institut National de la Santé et de la Recherche Médicale, U768, Paris, France.
J Exp Med. 2007 May;204(5):1207-16
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