Living with Cyclical neutropenia
A genetic condition where white blood cell levels drop on a regular cycle, leading to repeated infections, mouth sores, and fevers.
Understanding Cyclical neutropenia
Episodes of low neutrophils (neutropenia) show up at birth or soon after. For most people, they come back about every 21 days and last about 3 to 5 days. Health problems happen only during these episodes. When neutrophil levels are normal, the risk of infection is not higher.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated infections of the sinuses, airways, and skin
- Mouth sores (ulcers)
- Inflamed gums (gingivitis)
- Sore throat (pharyngitis)
- Recurrent fever
- Abdominal pain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ELANE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Neutropenia Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ELANE gene cause this condition. It is inherited in an autosomal dominant way, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: ch; cn; cyclic agranulocytosis; cyclic hematopoiesis; cyclic neutropenia; cyclically decreased total neutrophil count
Patient organizations
- National Neutropenia NetworkCyclical neutropenia · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Cyclical neutropenia.
Explore research for Cyclical neutropenia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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