Journal
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 204, Issue 5, Pages 1207-1216Publisher
ROCKEFELLER UNIV PRESS
DOI: 10.1084/jem.20070087
Keywords
-
Categories
Ask authors/readers for more resources
Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodefi ciencies, 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) mu regions. Further analysis performed with the cells of fi ve 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available