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 n...

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Bibliographic Details
Published in:	Immunologic research Vol. 38; no. 1-3; pp. 87 - 101
Main Authors:	Gatti, Richard A, Boder, Elena, Good, Robert A
Format:	Journal Article
Language:	English
Published:	United States Springer Nature B.V 01-07-2007
Subjects:	Ataxia Telangiectasia - genetics Chromosomes, Human, Pair 14 - genetics Chromosomes, Human, Pair 7 - genetics DNA Breaks, Double-Stranded Genotype & phenotype Humans Immunologic Deficiency Syndromes - genetics Immunology Neoplasms - genetics Nervous System Malformations - genetics Radiation Tolerance - genetics Syndrome Translocation, Genetic
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23
ISSN:	0257-277X 1559-0755
DOI:	10.1007/s12026-007-0018-y