National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cyclic neutropenia


Other Names:
Neutropenia cyclic; Cyclic hematopoiesis
Categories:
Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils (a type of white blood cell) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms of cyclic neutropenia may include fever, a general feeling of ill health, and/or sores (ulcers) of the mucous membranes of the mouth. Individuals with low levels of neutrophils (neutropenia) are highly susceptible to recurrent infections.[1] Cyclic neutropenia may be inherited or acquired. Some cases are present at birth and appear to occur randomly for no apparent reason (sporadic). Inherited cases appear to be transmitted in an autosomal dominant fashion and are caused by mutations in the ELANE gene.[2] Treatment includes prompt treatment of associated infections and and therapies aimed at stimulating the production of neutrophils, such as recombinant human granulocyte-colony stimulating factor (rhG-CSF).[1]
Last updated: 5/18/2016
The signs and symptoms of cyclic neutropenia usually appear at birth or shortly after. This condition is characterized by recurrent episodes of neutropenia that recur every 14-35 days (most commonly around 21 days) and last between 3 and 5 days. During times of neutropenia, it may be more difficult for the body to fight bacteria, viruses, and infections. The severity of the resulting infections can vary and are often similar to the severity of the neutropenia itself. Resulting symptoms during periods of neutropenia may include:  
  • Recurrent fever
  • Sore throat (pharyngitis)
  • Inflammation of the gums (gingivitis) 
  • Inflamed and sore mouth (stomatitis)
  • Infections in the skin and in other areas of the body
Additionally, individuals with this condition are at greater risk to develop chronic mouth ulcers. The cycling seems to decrease with age and may disappear by age 30 in some patients. Individuals with cyclic neutropenia only have symptoms during times of neutropenia. At other times when their neutrophil levels are normal, they are not at an increased risk for infection and inflammation.[3][4]
Last updated: 3/30/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Fatigue
Tired
Tiredness
[ more ] 		0012378
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Oral ulcer
Mouth ulcer
0000155
Overlapping toe
Overlapping toes
Overriding toes
[ more ] 		0001845
Recurrent skin infections
Skin infections, recurrent
0001581
Sepsis
Infection in blood stream
0100806
30%-79% of people have these symptoms
Periodontitis 0000704
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Abnormal eosinophil morphology 0001879
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Lymphadenopathy
Swollen lymph nodes
0002716
Recurrent aphthous stomatitis
Recurrent canker sores
0011107
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Abnormality of the mouth
Abnormal mouth
0000153
Autosomal dominant inheritance 0000006
Cyclic neutropenia 0040289
Fever 0001945
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Last updated: 7/1/2020
Cyclic neutropenia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.[4]
Last updated: 3/17/2014
The diagnosis of cyclic neutropenia may be suspected based on signs and symptoms including regular, cyclic fluctuations in the level of neutrophils in the blood. The diagnosis of cyclic neutropenia is often confirmed by blood work including measurement of an absolute neutrophil count that is less than 200/microL during periods of neutropenia on multiple days within at least 3 regularly spaced cycles. Genetic testing can additionally be helpful to confirm the diagnosis.[2][3]
Last updated: 3/30/2017

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for cyclic neutropenia includes taking antibiotic medicines for fevers and infections. People with abdominal pain need to be carefully evaluated for the potentially serious complications of peritonitis and bacteremia.[2]

Treatment with granulocyte colony-stimulating factor (G-CSF), also called Neupogen, is effective in raising blood neutrophil counts in cyclic neutropenia. G-CSF treatment reduces the symptoms and problems of infections in almost all people. Treatment is may be started as early as age six months to one year. Studies indicate that treatment is effective with no adverse effects on growth, development, or pregnancy outcome with follow-up to age 18 years.[2]

Common side effects of G-CSF include bone pain and headache, enlarged spleen, and osteoporosis. Less common side effects include vasculitis, rashes, joint pain, and kidney disease (glomerulonephritis).[2]

For people with a well-matched donor, a bone marrow transplant may be the preferred treatment option. HSCT is the only alternative therapy for individuals with congenital neutropenia who do not respond to G-CSF or who undergo malignant transformation to cancer.[2]

Last updated: 5/18/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cyclic neutropenia. Click on the link to view a sample search on this topic.

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  1. Boxer, LA. Neutropenia, Cyclic. National Organization for Rare Disorders (NORD). 2015; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/663/viewAbstract.
  2. Dale DC. ELANE-Related Neutropenia. GeneRevews. July 2011; http://www.ncbi.nlm.nih.gov/books/NBK1533/.
  3. Coates TD. Cyclic Neutropenia. UpToDate. May 09, 2016; http://www.uptodate.com/contents/cyclic-neutropenia.
  4. Cyclic neutropenia. Genetics Home Reference (GHR). January 2012; http://ghr.nlm.nih.gov/condition/cyclic-neutropenia. Accessed 3/17/2014.