Overview
Cyclic neutropenia is a rare blood disorder in which the number of neutrophils — a type of white blood cell that fights infections — drops very low in a regular, repeating pattern, usually every 21 days. Each episode of low neutrophil counts (called neutropenia) typically lasts 3 to 6 days. During these episodes, the body has a much harder time fighting off infections, especially bacterial infections. Patients commonly experience recurring mouth sores (oral ulcers), sore throats, fevers, and skin infections that come and go in a predictable cycle. The condition is usually present from early childhood, though some cases are diagnosed later. It is caused by mutations in the ELANE gene, which provides instructions for making a protein called neutrophil elastase. This protein is important for the normal development of neutrophils in the bone marrow. When the gene is mutated, neutrophil production becomes unstable and follows a cyclical pattern of rising and falling counts. The main treatment for cyclic neutropenia is granulocyte colony-stimulating factor (G-CSF), sold under the brand name Neupogen (filgrastim). G-CSF stimulates the bone marrow to produce more neutrophils, which shortens the duration and severity of the low-count episodes. With proper treatment, most patients can lead relatively normal lives, though they must remain vigilant about infections during neutropenic periods. Good dental hygiene and prompt treatment of infections are also important parts of managing this condition.
Key symptoms:
Recurring mouth sores and ulcersFrequent fevers that come and go in a regular patternSore throat and inflamed gums (gingivitis)Skin infections or boilsEar infectionsAbdominal painDiarrhea during neutropenic episodesFatigue and feeling unwell during low-count periodsSwollen and bleeding gumsRecurrent respiratory infectionsCellulitis (deep skin infections)Periodontal disease and tooth loss over timeLymph node swelling
Clinical phenotype terms (32)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Cyclic neutropenia.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesNEUPOGEN
Amgen
Neutropenia
Travel Grants
No travel grants are currently matched to Cyclic neutropenia.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How often should my blood counts be checked to monitor the cycle?,What dose of G-CSF is right for me or my child, and how often should it be given?,What temperature or symptoms should prompt an emergency room visit?,Are there any vaccines I should avoid or make sure to get?,How can I protect my teeth and gums from long-term damage?,Is genetic testing recommended for other family members?,Are there any clinical trials or new treatments being studied for cyclic neutropenia?
Common questions about Cyclic neutropenia
What is Cyclic neutropenia?
Cyclic neutropenia is a rare blood disorder in which the number of neutrophils — a type of white blood cell that fights infections — drops very low in a regular, repeating pattern, usually every 21 days. Each episode of low neutrophil counts (called neutropenia) typically lasts 3 to 6 days. During these episodes, the body has a much harder time fighting off infections, especially bacterial infections. Patients commonly experience recurring mouth sores (oral ulcers), sore throats, fevers, and skin infections that come and go in a predictable cycle. The condition is usually present from early c
How is Cyclic neutropenia inherited?
Cyclic neutropenia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cyclic neutropenia typically begin?
Typical onset of Cyclic neutropenia is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Cyclic neutropenia?
Yes — 1 recruiting clinical trial is currently listed for Cyclic neutropenia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Cyclic neutropenia?
21 specialists and care centers treating Cyclic neutropenia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Cyclic neutropenia?
1 patient support program are currently tracked on UniteRare for Cyclic neutropenia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.