Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.


Chronic granulomatous disease (CGD) is a rare inherited condition rendering neutrophils incapable of killing invading pathogens. This condition is due to the failure of a multicomponent microbicidal oxidase that normally yields a low-midpoint-potential b cytochrome (cytochrome b245). Although defects in the X chromosome-linked cytochrome account for the majority of CGD patients, as many as 30% of CGD cases are due to an autosomal recessive disease. Of these, greater than 90% have been shown to be defective in the synthesis of a 47-kDa cytosolic component of the oxidase. We demonstrate here in three unrelated cases of autosomal recessive CGD that the identical underlying molecular lesion is a dinucleotide deletion at a GTGT tandem repeat, corresponding to the acceptor site of the first intron-exon junction. Slippage of the DNA duplex at this site may contribute to the high frequency of defects in this gene.

Citations per Year

1,060 Citations

Semantic Scholar estimates that this publication has 1,060 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Casimir1991AutosomalRC, title={Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.}, author={Colin M Casimir and H N Bu-Ghanim and A R Rodaway and David L. Bentley and Peter S. N. Rowe and Anthony W Segal}, journal={Proceedings of the National Academy of Sciences of the United States of America}, year={1991}, volume={88 7}, pages={2753-7} }