HomeGeneticsGeneELANE gene
Back to Gene
ELANE gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ELANE gene

The ELANE gene provides instructions for making neutrophil elastase, a protein essential for neutrophils to fight infections and manage inflammation.

Normal Function

The ELANE gene provides instructions for making a protein called neutrophil elastase. This protein is found in neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to fight the infection.

Health Conditions Related to Genetic Changes

Cyclic neutropenia

More than 15 mutations in the ELANE gene have been found to cause cyclic neutropenia, a condition characterized by episodes of neutrophil shortages (neutropenia) and increased risk of infection. These mutations change single amino acids in the protein, creating an abnormal version that retains some function but causes neutrophils to have a shorter lifespan. This shorter lifespan leads to a recurring cycle of neutrophil shortages, typically every 21 days, as the body works to replenish its supply.

Severe congenital neutropenia

More than 70 mutations in the ELANE gene have been found to cause severe congenital neutropenia, a condition characterized by neutropenia beginning in infancy. Most of these mutations alter the structure of neutrophil elastase, causing it to fold into an incorrect 3-dimensional shape. This misfolded protein accumulates within the neutrophils, damaging and killing these infection-fighting cells. This deficiency leads to recurrent infections, inflammation, and other immune problems.

Other Names for This Gene

  • bone marrow serine protease
  • ELA2
  • elastase-2
  • ELNE_HUMAN
  • granulocyte-derived elastase
  • NE
  • neutrophil elastase

Frequently Asked Questions

Both cyclic neutropenia and severe congenital neutropenia caused by ELANE mutations are typically inherited in an autosomal dominant pattern. This means if one parent has the mutation, there is a 50% chance with each pregnancy that their child will inherit the mutation and develop the condition. Genetic counseling can provide a more personalized risk assessment.
Cyclic neutropenia typically involves recurring episodes of low neutrophil counts, often every 21 days, leading to intermittent fevers, mouth sores, and increased infection risk during those periods. Severe congenital neutropenia, however, presents from infancy with persistently very low neutrophil counts, resulting in more frequent, severe, and life-threatening infections, often affecting multiple body systems.
Key warning signs include sudden fever (especially above 100.4°F or 38°C), chills, severe sore throat, mouth sores that worsen or don't heal, skin infections (redness, swelling, pus), persistent diarrhea, or unusual fatigue. These symptoms warrant immediate medical attention as neutropenic patients are highly susceptible to rapid infection progression.
Maintaining excellent hygiene, such as frequent handwashing, is crucial. Avoiding crowded places or sick individuals, especially during periods of low neutrophil counts, can reduce infection exposure. Good dental care, avoiding raw foods, and ensuring all vaccinations are up-to-date (as advised by a doctor) are also important. Regular blood tests to monitor neutrophil levels help guide activity and treatment decisions.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss