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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.
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.