Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.

@article{Newburger2010CyclicNA,
  title={Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.},
  author={Peter E Newburger and Talia N. Pindyck and Zhiqing Zhu and Audrey Anna Bolyard and Andrew A. G. Aprikyan and David C Dale and G Denice Smith and Laurence Boxer},
  journal={Pediatric blood & cancer},
  year={2010},
  volume={55 2},
  pages={314-7}
}
BACKGROUND Cyclic neutropenia (CN) and severe congenital neutropenia (SCN) are disorders of neutrophil production that differ markedly in disease severity. Mutations of the ELANE gene (the symbol recently replacing ELA2) are considered largely responsible for most cases of CN and SCN, but specific mutations are typically associated with one or the other. PROCEDURE We performed ELANE genotyping on all individuals and paternal sperm in an SCN kindred with eight SCN progeny of a sperm donor and… CONTINUE READING
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Neutrophil elastase is severely downregulated in severe congenital neutropenia ( CN ) independent of ELA 2 or HAX 1 mutations but dependent on LEF - 1

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