Contents
What Causes Cyclic Neutropenia? Unraveling the Mystery
Published: Oct 17, 2023
Cyclic neutropenia is linked to genetic changes affecting neutrophil production. Discover what causes this unusual condition.
Genetic Mutations
Cyclic neutropenia is primarily caused by mutations in the ELANE gene, which encodes neutrophil elastase. These mutations lead to abnormal neutrophil development and periodic drops in neutrophil counts. The ELANE gene mutations are inherited in an autosomal dominant pattern, affecting both males and females.
How Mutations Affect Neutrophils
The mutations cause accelerated apoptosis, or cell death, of neutrophil precursors. This leads to the characteristic oscillating pattern of neutrophil counts. The abnormal neutrophil elastase fails to inhibit early apoptosis, disrupting normal neutrophil production and leading to recurrent neutropenia.
Influence of Other Genetic Factors
While ELANE mutations are central, other genetic elements may influence the condition's severity and symptoms. Variations in other genes can modify how cyclic neutropenia manifests, making it crucial to consider genetic testing in diagnosis.
Frequently Asked Questions
The ELANE gene is primarily involved.
They cause premature cell death, lowering neutrophil counts.
Yes, it's inherited in an autosomal dominant pattern.
Yes, other genetic factors can influence severity.
Wrapping Up
Understanding the genetic causes of cyclic neutropenia can aid in better diagnosis and treatment.
References
- Horwitz MS, Corey SJ, Grimes HL, Tidwell T. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin North Am 2013; 27:19.
- Makaryan V, Zeidler C, Bolyard AA, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol 2015; 22:3.
- Germeshausen M, Deerberg S, Peter Y, et al. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat 2013; 34:905.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
AI Doctor Visit Required
Appointments available 24/7
Top licensed doctors
Available in all 50 states
Full service care
Prescriptions, referrals & treatment
No insurance needed
All notes available in Doctronic
15-min consultation. No hidden costs.
AI Doctor Visit Required
Please Chat With Our AI Doctor First
Our AI doctor assessment helps our human doctors prepare for your video visit and provide better care
For safety reasons we have been forced to end this consultation.
If you believe this is a medical emergency please call 911 or your local emergency services immediately.
If you are experiencing emotional distress, please call the the Suicide & Crisis Lifeline at 988 or your local crisis services immediately.
Contact us
You can also email us at help@doctronic.ai
We aim to reply within 5-7 days
How likely are you to recommend Doctronic to friends or family?