Article
Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy.
The Journal of investigative dermatology - 1 Jan 1990
Norris P G, Limb G A, Hamblin A S, Lehmann A R, Arlett C F, Cole J, Waugh A P, Hawk J L
Abstract excerpt
There is evidence for defective DNA repair in xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy, but for increased cancer risk only in xeroderma pigmentosum. Natural and adaptive immune surveillance and mutant frequency to 6-thioguanine resistance in circulating T-lymphocytes were studied in five patients with xeroderma pigmentosum, two with Cockayne's syndrome, and one with trichothiodystrophy....
Topics
- Antigens, CD
- Cockayne Syndrome
- Cytotoxicity, Immunologic
- DNA Repair
- Dwarfism
- Female
- Hair Diseases
- Humans
- Ichthyosis
- Immune System
- Killer Cells, Lymphokine-Activated