[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome].
UV-sensitivity is a common feature of several diseases including Xeroderma pigmentosum (XP), Cockayne syndrome (CS) and Bloom syndrome (BS). In 12 children with such diseases, cell viability and DNA repair following UV-irradiation as well as PHA transformation of lymphocytes were studied. In 5 of 6 XP cases, in 1 child with CS and in 1 of 2 children with BS, DNA repair and PHA transformation of lymphocytes showed extremely depressed values. A similar study was performed in 2 children with a rare association of XP and CS. Results suggest a relationship between these 2 diseases
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D011088:DNA Ligases / Q000378:metabolism / Q000528:radiation effects; D004260:DNA Repair; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000145:classification*; D005145:Face / Q000002:abnormalities; D005148:Facial Dermatoses / Q000175:diagnosis; D005260:Female; D006801:Humans; D008213:Lymphocyte Activation / Q000187:drug effects / Q000528:radiation effects; D008214:Lymphocytes / Q000528:radiation effects; D008297:Male; D010787:Photosensitivity Disorders / Q000145:classification*; D013577:Syndrome; D013936:Thymidine / Q000378:metabolism; D014316:Tritium; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000145:classification*
D014316:Tritium; D011088:DNA Ligases; D013936:Thymidine
Photosensibilité et réparation de l'ADN. Possibilité d'une parenté nosologique entre Xéroderma pigmentosum et syndrome de Cockayne.