Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Neutropenia cyclic; Cyclic hematopoiesis
Blood Diseases; Congenital and Genetic Diseases; Immune System Diseases
Cyclic neutropenia is a rare
- 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.
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Swollen lymph nodes in the neck
[ more ]
Red and swollen gums
[ more ]
|Recurrent skin infections||
Skin infections, recurrent
|Respiratory tract infection||
Inflammation of tonsils
|5%-29% of people have these symptoms|
Pain in stomach
[ more ]
|Atrophy of alveolar ridges||
Shrinking of gum ridges
Bacterial infection of skin
[ more ]
|Decreased eosinophil count||0031891|
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
Middle ear infection
|Premature loss of permanent teeth||
Early loss of adult teeth
Early loss of permanent teeth
Premature loss of adult teeth
[ more ]
Low platelet count
|1%-4% of people have these symptoms|
Infection in blood stream
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the mouth||
Low blood neutrophil count
Low neutrophil count
[ more ]
- 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 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 . 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.
Common side effects of G-CSF include bone pain and headache, enlarged spleen, and
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.
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.
- Genetics Home Reference (GHR) contains information on Cyclic neutropenia. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- Boxer, LA. Neutropenia, Cyclic. National Organization for Rare Disorders (NORD). 2015; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/663/viewAbstract.
- Dale DC. ELANE-Related Neutropenia. GeneRevews. July 2011; https://www.ncbi.nlm.nih.gov/books/NBK1533/.
- Coates TD. Cyclic Neutropenia. UpToDate. May 09, 2016; https://www.uptodate.com/contents/cyclic-neutropenia.
- Cyclic neutropenia. Genetics Home Reference (GHR). January 2012; https://ghr.nlm.nih.gov/condition/cyclic-neutropenia. Accessed 3/17/2014.