Human Cyclic Neutropenia

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Human Cyclic Neutropenia: A Comprehensive Guide


Human cyclic neutropenia (HCN) is a rare, inherited blood disorder characterized by cyclical fluctuations in the number of neutrophils, a type of white blood cell responsible for fighting infections. Neutrophils are essential for defending the body against bacterial and fungal infections. In individuals with HCN, the neutrophil count drops to very low levels (neutropenia) at regular intervals, typically every 21 days. These episodes of neutropenia increase the risk of severe infections.


HCN is an extremely rare condition, affecting approximately 1 in 20,000 individuals worldwide. Both males and females can be affected, but it is slightly more common in males. The condition is typically diagnosed during early childhood, with the first symptoms usually appearing before age 2.


HCN is caused by mutations in the ELANE gene, which encodes the protein neutrophil elastase. Neutrophil elastase plays a crucial role in the normal function and survival of neutrophils. Mutations in the ELANE gene result in the production of a defective enzyme, which leads to the premature death of neutrophils. This results in periodic drops in neutrophil counts, leading to neutropenia.


The primary symptom of HCN is recurrent episodes of neutropenia, usually occurring every 14-21 days. During these episodes, individuals may experience:

  • Fever
  • Chills
  • Mouth sores
  • Skin infections
  • Pneumonia
  • Sepsis (a severe, life-threatening infection)

Other potential symptoms include:

  • Fatigue
  • Weakness
  • Short stature
  • Skeletal abnormalities
  • Delayed puberty


Diagnosing HCN can be challenging, as the symptoms often resemble those of other conditions. A detailed medical history and physical examination are essential for initial evaluation. Blood tests are performed to measure neutrophil counts, which will typically show cyclic drops. Genetic testing can confirm the diagnosis by identifying mutations in the ELANE gene.


The primary goal of treatment for HCN is to prevent and manage infections. This includes:

  • Antibiotics: Prophylactic antibiotics may be prescribed during periods of neutropenia to prevent infections.
  • Granulocyte colony-stimulating factor (G-CSF): G-CSF is a medication that stimulates the production of neutrophils. It can be used to increase neutrophil counts during episodes of neutropenia.
  • Bone marrow transplantation: In severe cases, bone marrow transplantation may be considered to replace the defective bone marrow with healthy bone marrow that produces normal neutrophils.


The prognosis for individuals with HCN varies. With proper medical management, most patients can live full and active lives. However, the risk of infections remains a concern throughout life. Regular monitoring of neutrophil counts and prompt treatment of infections are essential for optimal outcomes.


HCN can be associated with several potential complications, including:

  • Sepsis: This is a severe, life-threatening infection that can occur during periods of severe neutropenia.
  • Pneumonia: Pneumonia is a lung infection that can be particularly dangerous in individuals with HCN.
  • Other infections: Skin infections, mouth sores, and other types of infections are common in individuals with HCN.
  • Delayed growth and development: In some cases, HCN can affect growth and development, particularly during childhood.
  • Skeletal abnormalities: Individuals with HCN may experience joint pain, curvature of the spine (scoliosis), and other skeletal problems.


Managing HCN requires close collaboration between the individual, their family, and healthcare providers. Regular follow-up appointments are essential to monitor neutrophil counts, adjust medications, and prevent infections.

  • Infection prevention: Practicing good hygiene, avoiding contact with sick individuals, and receiving vaccinations are crucial for preventing infections.
  • Regular blood counts: Weekly or bi-weekly blood counts are necessary to track neutrophil levels and identify periods of neutropenia.
  • Antibiotics: Antibiotics are typically prescribed during periods of neutropenia to prevent infections.
  • G-CSF therapy: G-CSF may be used to increase neutrophil counts during episodes of neutropenia and reduce the risk of infections.
  • Nutritional support: Maintaining a healthy diet and addressing any nutritional deficiencies is important for overall well-being.
  • Emotional support: Living with a chronic condition can be challenging. Emotional support and counseling can help individuals and their families cope with the psychological and emotional aspects of HCN.


Ongoing research aims to improve the understanding of HCN, identify new treatment options, and develop strategies to prevent complications. Current research areas include:

  • Gene therapy: Exploring the potential of gene therapy to correct the defective ELANE gene.
  • New medications: Developing new medications that can stimulate neutrophil production or enhance neutrophil function.
  • Immune system modulation: Researching ways to modulate the immune system to reduce neutropenia and improve infection resistance.


Human cyclic neutropenia is a rare blood disorder that significantly affects the immune system. Individuals with HCN experience recurrent episodes of neutropenia, increasing their risk of infections. Early diagnosis and proper management are essential for preventing complications and improving the overall quality of life. Ongoing research aims to advance our understanding of HCN and develop new therapeutic approaches to improve outcomes for affected individuals.

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