Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cyclic Neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils—a type of white blood cell essential for fighting bacterial infections—occurring in a regular, rhythmic cycle typically every 21 days. Because these cells are depleted periodically, individuals with Cyclic Neutropenia are highly susceptible to infections like fevers, mouth sores, and skin infections during their "nadir" or low-count phase. What causes Cyclic Neutropenia? Cyclic Neutropenia is primarily caused by a mutation in the ELANE gene, which provides instructions for making neutrophil elastase.
What is Cyclic Neutropenia
What is Cyclic Neutropenia? Plain-language, medically reviewed definition plus the lived reality told by patients.
Cyclic Neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils—a type of white blood cell essential for fighting bacterial infections—occurring in a regular, rhythmic cycle typically every 21 days. Because these cells are depleted periodically, individuals with Cyclic Neutropenia are highly susceptible to infections like fevers, mouth sores, and skin infections during their "nadir" or low-count phase.
What causes Cyclic Neutropenia?
Cyclic Neutropenia is primarily caused by a mutation in the ELANE gene, which provides instructions for making neutrophil elastase. This mutation disrupts the normal maturation process of neutrophil precursors in the bone marrow. In most cases, Cyclic Neutropenia follows an autosomal dominant inheritance pattern, meaning a child only needs to inherit the mutation from one parent to develop the condition, though spontaneous (de novo) mutations also occur.
How does Cyclic Neutropenia affect the body?
The hallmark of Cyclic Neutropenia is the oscillation of neutrophil counts. During the 3–5 day period when counts are at their lowest, patients may experience:
- Fever and chills
- Severe oral ulcerations or gingivitis
- Skin infections or abscesses
- Pharyngitis (sore throat)
- General malaise and fatigue
How rare is this condition and who does it affect?
Cyclic Neutropenia is an extremely rare condition with an estimated prevalence of approximately 1 in 1,000,000 individuals worldwide. It typically presents in infancy or early childhood, though mild cases may go undiagnosed until adulthood. There is no known predilection for gender or geographic location; it affects individuals globally across all ethnic backgrounds. Currently, 25 people with Cyclic Neutropenia have joined the DiseaseMaps community to share their experiences and support one another.
How is this different from other neutropenias?
Unlike Severe Congenital Neutropenia (SCN), where neutrophil counts are consistently low, Cyclic Neutropenia is defined by the predictable timing of the cycle. While SCN carries a significantly higher risk of progression to leukemia, the risk in Cyclic Neutropenia is generally lower, though regular hematologic monitoring remains essential.
Next steps
- Consult a hematologist or immunologist to confirm the diagnosis through serial blood counts and ELANE genetic testing.
- Keep a detailed symptom diary to track the timing of your cycles.
- Connect with the DiseaseMaps.org community to share experiences with others navigating this rare diagnosis.
- Discuss the potential use of Granulocyte Colony-Stimulating Factor (G-CSF) with your specialist to manage symptoms.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cyclic Neutropenia
- Orphanet: Cyclic Neutropenia (ORPHA:647)
- Online Mendelian Inheritance in Man (OMIM): Neutropenia, Cyclic (#162800)
- The Severe Chronic Neutropenia International Registry (SCNIR)
