Ontology highlight
ABSTRACT:
SUBMITTER: van der Burg M
PROVIDER: S-EPMC2613452 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
van der Burg Mirjam M Ijspeert Hanna H Verkaik Nicole S NS Turul Tuba T Wiegant Wouter W WW Morotomi-Yano Keiko K Mari Pierre-Olivier PO Tezcan Ilhan I Chen David J DJ Zdzienicka Malgorzata Z MZ van Dongen Jacques J M JJ van Gent Dik C DC
The Journal of clinical investigation 20081215 1
Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have identified the first human RS-SCID patient to our knowledge with a DNA-PKcs missense mutation (L3062R). The causative mutation did not affect the kinase activity or DNA end-binding capacity of DNA-PKcs itself; rather, the presence of long P-nucleotide stretches in the immunoglobulin ...[more]