A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

Sophie Péron, Qiang Pan-Hammarström, Kohsuke Imai, Likun Du, Nadine Taubenheim, Ozden Sanal, Laszlo Marodi, Anne Bergelin-Besançon, Malika Benkerrou, Jean Pierre De Villartay, Alain Fischer, Patrick Revy, Anne Durandy

Research output: Contribution to journalArticle

32 Citations (Scopus)

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. JEM

Original languageEnglish
Pages (from-to)1207-1216
Number of pages10
JournalJournal of Experimental Medicine
Volume204
Issue number5
DOIs
Publication statusPublished - May 1 2007

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Fingerprint Dive into the research topics of 'A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair'. Together they form a unique fingerprint.

  • Cite this

    Péron, S., Pan-Hammarström, Q., Imai, K., Du, L., Taubenheim, N., Sanal, O., Marodi, L., Bergelin-Besançon, A., Benkerrou, M., De Villartay, J. P., Fischer, A., Revy, P., & Durandy, A. (2007). A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. Journal of Experimental Medicine, 204(5), 1207-1216. https://doi.org/10.1084/jem.20070087