Immunodeficiency, radiosensitivity, and the XCIND syndrome.
Through the analysis of a rare disorder called ataxia-telangiectasia (A-T), many important biological lessons have been gleaned. Today, it is clear that the underlying defect of A-T lies in the nucleus, as an inability to repair or process double strand breaks. More important, by the A-T phenotype now allows us to appreciate a much more general distinction between immunodeficiencies that are radiosensitive and those that are not.
Gatti
Richard A
RA
Department of Pathology & Laboratory Medicine, UCLA David Geffin School of Medicine, Los Angeles, CA 90095-1732, USA. rgatti@mednet.ucla.edu
Boder
Elena
E
Good
Robert A
RA
D001260:Ataxia Telangiectasia / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D053903:DNA Breaks, Double-Stranded; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics*; D011836:Radiation Tolerance / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic