SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Sanal O)
 

Search: WFRF:(Sanal O) > (2005-2009) > A primary immunodef...

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

Peron, S (author)
Pan-Hammarstrom, Q (author)
Karolinska Institutet
Imai, K (author)
show more...
Du, LK (author)
Karolinska Institutet
Taubenheim, N (author)
Sanal, O (author)
Marodi, L (author)
Bergelin-Besancon, A (author)
Benkerrou, M (author)
de Villartay, JP (author)
Fischer, A (author)
Revy, P (author)
Durandy, A (author)
show less...
 (creator_code:org_t)
2007-05-07
2007
English.
In: The Journal of experimental medicine. - : Rockefeller University Press. - 0022-1007 .- 1540-9538. ; 204:5, s. 1207-1216
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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.

Publication and Content Type

ref (subject category)
art (subject category)

Find in a library

To the university's database

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view