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, L. Máródi, Anne Bergelin-Besançon, Malika Benkerrou, Jean Pierre De Villartay, Alain Fischer, Patrick Revy, Anne Durandy

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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 2007

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Immunoglobulin Isotypes
DNA Repair
Genetic Recombination
Uracil-DNA Glycosidase
CD40 Ligand
Double-Stranded DNA Breaks
Radiation Tolerance
Immunoglobulin A
Immunoglobulin E
Immunoglobulin G
Phenotype

ASJC Scopus subject areas

  • Immunology

Cite this

Péron, S., Pan-Hammarström, Q., Imai, K., Du, L., Taubenheim, N., Sanal, O., ... 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

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. / Péron, Sophie; Pan-Hammarström, Qiang; Imai, Kohsuke; Du, Likun; Taubenheim, Nadine; Sanal, Ozden; Máródi, L.; Bergelin-Besançon, Anne; Benkerrou, Malika; De Villartay, Jean Pierre; Fischer, Alain; Revy, Patrick; Durandy, Anne.

In: Journal of Experimental Medicine, Vol. 204, No. 5, 05.2007, p. 1207-1216.

Research output: Contribution to journalArticle

Péron, S, Pan-Hammarström, Q, Imai, K, Du, L, Taubenheim, N, Sanal, O, Máródi, L, Bergelin-Besançon, A, Benkerrou, M, De Villartay, JP, 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, vol. 204, no. 5, pp. 1207-1216. https://doi.org/10.1084/jem.20070087
Péron, Sophie ; Pan-Hammarström, Qiang ; Imai, Kohsuke ; Du, Likun ; Taubenheim, Nadine ; Sanal, Ozden ; Máródi, L. ; Bergelin-Besançon, Anne ; Benkerrou, Malika ; De Villartay, Jean Pierre ; Fischer, Alain ; Revy, Patrick ; Durandy, Anne. / A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. In: Journal of Experimental Medicine. 2007 ; Vol. 204, No. 5. pp. 1207-1216.
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