Cyclic neutropenia.
Cyclic neutropenia is a rare hematologic disorder, characterized by repetitive episodes of fever, mouth ulcers, and infections attributable to recurrent severe neutropenia. Fluctuations in blood cells are due to oscillatory production of cells by the bone marrow. Recent genetic, molecular, and cellular studies have shown that autosomal-dominant cyclic neutropenia and sporadic cases of this disease are due to a mutation in the gene for neutrophil elastase (ELA2), located at 19p13.3. This enzyme is synthesized in neutrophil precursors early in the process of primary granule formation. It is currently presumed that the mutant neutrophil elastase functions aberrantly within the cells to accelerate apoptosis of the precursors, resulting in effective and oscillatory production. Cyclic neutropenia is effectively treated with granulocyte colony-stimulating factor (G-CSF), usually at doses of 1 to 5 microg/kg/d (median dose, 2.5 microg/kg/d). Long-term, daily, or alternate-day administration reduces fever, mouth ulcers, and other inflammatory events associated with this disorder. Leukemic transformation is not a recognized risk for cyclic neutropenia, with or without treatment with G-CSF.
Dale
David C
DC
Department of Medicine, and the Severe Chronic Neutropenia International Registry, University of Washington, Seattle, WA 98195-6422, USA.
Bolyard
Audrey Anna
AA
Aprikyan
Andrew
A
D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000188:drug therapy / Q000201:enzymology* / Q000209:etiology; D010507:Periodicity; D012008:Recurrence
D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase