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The Indian Journal of Pediatrics

, Volume 85, Issue 10, pp 916–917 | Cite as

Novel Gene Mutation in a Chinese Boy with Severe Congenital Neutropenia

  • Tingting Zou
  • Jianjun Deng
  • Min Shu
  • Qin Guo
  • Ruixue Miao
  • Chao-min Wan
  • Gang Ning
  • Yu Zhu
Scientific Letter
  • 103 Downloads

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

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    Box LA, Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer. 2007;49:609–14.CrossRefGoogle Scholar
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    Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317–22.PubMedGoogle Scholar
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    Ishikawa N, Okada S, Miki M, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet. 2008;45:802–7.CrossRefGoogle Scholar
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    Smith BN, Ancliff BJ, Pizzey A, et al. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. Br J Haematol. 2009;144:762–70.CrossRefGoogle Scholar
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    Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat. 2013;34:905–14.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Department of Infectious DiseasesWest China Second University HospitalChengduChina
  2. 2.Department of Medical ImagingWest China Second University HospitalChengduChina

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