Intermittent neutropenia

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ORPHA:2689
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Overview

Intermittent neutropenia, also known as periodic neutropenia or 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 on a regular or irregular basis. Neutrophils are essential for defending the body against bacteria and fungi, so when their levels fall, a person becomes much more vulnerable to infections. In the cyclic form, neutrophil counts typically drop every 21 days or so, with each episode of low counts lasting about 3 to 7 days. During these low periods, patients often develop mouth sores (oral ulcers), sore throats, fever, and skin infections. Some people experience more serious infections affecting the lungs, gums, or bloodstream. Between episodes, neutrophil counts return to normal or near-normal levels, and patients generally feel well. The severity of the condition varies widely. Some individuals have mild symptoms that are mainly a nuisance, while others face life-threatening infections during their low periods. Treatment focuses on preventing and managing infections. Granulocyte colony-stimulating factor (G-CSF), sold under the brand name Neupogen (filgrastim), is the main treatment and works by stimulating the bone marrow to produce more neutrophils, which shortens the duration and severity of the low periods. With proper management, many patients lead relatively normal lives.

Key symptoms:

Recurring feversMouth sores or oral ulcersSore throatSwollen and painful gums (gingivitis)Skin infections or boilsFatigue and general feeling of being unwellEar infectionsLung infections or pneumoniaAbdominal painDiarrheaRecurrent bacterial infectionsGum disease and tooth loss over timeBloodstream infections (sepsis) in severe cases

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Intermittent neutropenia.

View clinical trials →

No actively recruiting trials found for Intermittent neutropenia at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Intermittent neutropenia community →

No specialists are currently listed for Intermittent neutropenia.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Intermittent neutropenia.

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Community

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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 track the pattern?,Is G-CSF treatment recommended for my case, and how will the dose be adjusted?,What temperature or symptoms should prompt an emergency room visit?,Should I have genetic testing for the ELANE gene, and should family members be tested?,What precautions should I take during low-count periods to avoid infections?,Is there a risk of developing blood cancer, and how will that be monitored?,Are there any vaccines I should avoid or make sure to get?

Common questions about Intermittent neutropenia

What is Intermittent neutropenia?

Intermittent neutropenia, also known as periodic neutropenia or 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 on a regular or irregular basis. Neutrophils are essential for defending the body against bacteria and fungi, so when their levels fall, a person becomes much more vulnerable to infections. In the cyclic form, neutrophil counts typically drop every 21 days or so, with each episode of low counts lasting about 3 to 7 days. During these low periods, patients often develop mouth sores (oral