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Cyclic neutropenia.

David C Dale1, Audrey Anna Bolyard, Andrew Aprikyan

  • 1Department of Medicine, and the Severe Chronic Neutropenia International Registry, University of Washington, Seattle, WA 98195-6422, USA.

Seminars in Hematology
|April 17, 2002
PubMed
Summary
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Cyclic neutropenia, a rare blood disorder, involves recurrent infections due to low neutrophil counts. Mutations in the neutrophil elastase gene (ELA2) cause this condition, effectively managed with granulocyte colony-stimulating factor (G-CSF).

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Cyclic neutropenia is a rare hematologic disorder causing recurrent fever, mouth ulcers, and infections due to severe neutropenia.
  • Blood cell fluctuations stem from oscillatory bone marrow production.
  • Genetic studies link cyclic neutropenia to mutations in the neutrophil elastase gene (ELA2).

Purpose of the Study:

  • To summarize the understanding of cyclic neutropenia's genetic basis and treatment.
  • To highlight the role of neutrophil elastase mutations.
  • To discuss the efficacy of G-CSF treatment.

Main Methods:

  • Review of genetic, molecular, and cellular studies.
  • Analysis of ELA2 gene mutations.
  • Evaluation of treatment outcomes with G-CSF.

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Main Results:

  • Autosomal-dominant and sporadic cyclic neutropenia are linked to ELA2 gene mutations.
  • Mutant neutrophil elastase may accelerate neutrophil precursor apoptosis, causing oscillatory production.
  • Granulocyte colony-stimulating factor (G-CSF) effectively treats cyclic neutropenia, reducing symptoms.

Conclusions:

  • Cyclic neutropenia is caused by ELA2 mutations, leading to aberrant neutrophil elastase function.
  • G-CSF is an effective long-term treatment for cyclic neutropenia.
  • Leukemic transformation is not a recognized risk.