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- A rare hematologic disorder characterized by recurrent fevers, mouth ulcers, and infections attributable to regularly recurring severe neutropenia
- Although inherited in an autosomal dominant pattern, mutations in the gene for neutrophil elastase (ELA-2), sporadic mutations can occur; characterized by neutropenia that recurs every 14 to 35 days, with 90% of patients exhibiting a cycle of 21 days
- During the neutropenic period, blood neutrophil levels fall to <0.2 × 109/L for 3 to 5 days, before increasing to near the lower limit of normal, ~2 × 109/L.
- Most patients present before the age of 5 years:
- 32% are <1 year of age.
- 27% are between ages 1 and 5 years.
- Occurs equally in both sexes
1 to 2 in a million people
Etiology and Pathophysiology
- Bone marrow during neutropenia demonstrates “maturation arrest” at the promyelocyte and myelocyte stage of development.
- At least 80% of cases of cyclic neutropenia are attributable to the mutations for neutrophil elastase (ELA-2/ELANE).
- This mutation results in accelerated apoptosis of neutrophil progenitors, making neutrophil production inefficient.
- It is not known if any other mutations can cause this disease.
- The cause of acquired cyclic neutropenia is unknown.
- Autosomal dominant disorder with full penetrance but varying severity of clinical manifestations (expression)
- Most commonly sporadic
- Due to mutations in the gene for neutrophil elastase (ELA-2 or ELANE) on chromosome 19p13.3 (1)[A]
- Family history is predictive, although patients proven to have the (ELA) mutation will lack positive family history due to subclinical presentation among family members, new mutation, or variability in expression.
- Neutropenia may also be inherited. This condition is called ethnic benign neutropenia because it is not associated with any type of infection.
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