Cyclic neutropenia – Austra Health

Cyclic neutropenia is a rare genetic condition characterized by recurrent episodes of abnormally low levels of neutrophils, a type of white blood cell that helps fight infections. Neutropenia can lead to increased susceptibility to infections and other health problems. This condition is also known by other names, including “cyclic hematopoiesis” and “cyclic hematological depression.”

Patients with cyclic neutropenia typically experience regular periods of neutropenia, usually lasting 2-3 days, followed by a return to normal neutrophil levels. The frequency of these episodes can vary depending on the individual, with some experiencing them every 21 days and others every 45 days. During the neutropenic period, patients may be more prone to infections and may exhibit symptoms such as fever, sore throat, and mouth ulcers.

Cyclic neutropenia is inherited in an autosomal dominant manner, which means that individuals with the condition have a 50% chance of passing it on to each of their children. The condition is caused by mutations in the ELANE gene, which provides instructions for making a protein called neutrophil elastase. Mutations in this gene lead to a shortage of neutrophil elastase, which in turn affects the development and function of neutrophils.

Diagnosis of cyclic neutropenia typically involves blood testing to measure neutrophil levels over a period of time. Additional genetic testing may be required to confirm the presence of ELANE gene mutations. There is no cure for cyclic neutropenia, but treatment options aim to manage symptoms and prevent complications. This may include the use of medications to boost neutrophil production or the use of antibiotics to prevent infections during neutropenic episodes. Regular monitoring and close follow-up with a healthcare provider are important for individuals with cyclic neutropenia.

For more information about cyclic neutropenia and other rare genetic conditions, resources such as the Genetic and Rare Diseases Information Center (GARD) and Online Mendelian Inheritance in Man (OMIM) provide comprehensive articles, references, and support for patients and their families. Scientific articles and advocacy organizations like the Dale Welte Center for Neutropenia at the University of Washington are additional valuable sources of information for learning about this condition.

This article is sourced from the Dale Welte Center for Neutropenia at the University of Washington and references information from OMIM and GARD.

Frequency

Cyclic neutropenia is a rare genetic condition characterized by episodes of a temporary shortage of neutrophils, a type of white blood cell. It is also known as “cyclic hematopoiesis” or “congenital periodic neutropenia.”

This condition affects approximately 1 in 1 million individuals worldwide. It is more common in certain populations, such as the Amish community, where the frequency has been reported to be as high as 1 in 200 individuals.

Patients with cyclic neutropenia may experience cyclic episodes of neutrophil shortage, with each episode lasting about 3-5 days. During these episodes, the patient may have symptoms such as fever, oral ulcers, skin infections, respiratory infections, and other problems associated with a weakened immune system.

Cyclic neutropenia is primarily caused by mutations in the ELANE gene, which provides instructions for making a protein called neutrophil elastase. Mutations in other genes have also been associated with this condition.

For more information about the frequency of cyclic neutropenia and its associated genetic causes, please consult the references and resources listed below:

Dale DC, Zeidler C. Cyclic Neutropenia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1405/
“Cyclic Neutropenia”. OMIM. Johns Hopkins University. Retrieved 2022-12-05.
Additional articles on cyclic neutropenia can be found on PubMed, a database of scientific articles. Search using keywords such as “cyclic neutropenia” or “congenital periodic neutropenia” to access relevant articles.

Support and advocacy resources for patients with cyclic neutropenia and other rare genetic diseases can be found through organizations such as the Genetic and Rare Diseases Information Center (GARD) and the Neutropenia Support Association.

Learn more about cyclic neutropenia, its symptoms, causes, genetic inheritance, and testing options at the Cyclic Neutropenia Center website.

Causes

Cyclic neutropenia is a rare genetic condition characterized by episodes of a shortage or absence of neutrophils, a type of white blood cell. The exact causes of cyclic neutropenia are not well understood, but it is thought to be primarily associated with genetic mutations.

Researchers have cataloged several genes that can cause cyclic neutropenia. Mutations in these genes can lead to abnormal production and function of neutrophils, resulting in the characteristic episodes of low neutrophil counts. Some of the known genes associated with cyclic neutropenia include ELANE, HAX1, G6PC3, and JAGN1.

A study published in the journal “Neutrophil” reported the identification of a gene called “GFI1” that may also be involved in the development of cyclic neutropenia. This finding provides additional insights into the genetic basis of the condition.

Cyclic neutropenia is classified as a congenital condition, meaning it is present at birth. The inheritance pattern of cyclic neutropenia can vary depending on the specific genetic mutation involved. Some forms of cyclic neutropenia are inherited in an autosomal dominant pattern, while others follow an autosomal recessive pattern.

Patients with cyclic neutropenia often experience regular episodes of low neutrophil counts, typically occurring every 21 days. These episodes can lead to symptoms such as recurrent infections, mouth ulcers, fever, and fatigue.

Genetic testing is available to confirm a diagnosis of cyclic neutropenia. This testing can identify specific genetic mutations associated with the condition and help guide treatment decisions.

For more information about cyclic neutropenia, advocacy and support resources, and scientific articles on the condition, the Dale and Betty Bumpers Vaccine Research Center at the National Institutes of Health (NIH) and the OMIM database are valuable resources. PubMed is also a useful source for articles on cyclic neutropenia and other genetic diseases.

References:

Zeidler C, et al. Cyclic neutropenia: clinical manifestations and molecular background. Genes Immun. 2003;4(1):1-8.
Dale DC. Cyclic neutropenia and severe congenital neutropenia. Hematology Am Soc Hematol Educ Program. 2007;2007(1):26-30.
Welte K, et al. Cyclic neutropenia. Hematol Oncol Clin North Am. 2013;27(1):17-22.

Learn more about the gene associated with Cyclic neutropenia

Patients with Cyclic neutropenia experience episodes of abnormally low levels of neutrophils, a specific type of white blood cell that plays a crucial role in the immune system. This genetic condition, also known as congenital neutropenia, causes a shortage of neutrophils, making individuals more susceptible to infections and other health problems.

The gene associated with Cyclic neutropenia is called ELANE. Mutations in this gene have been found to be responsible for the development of the condition. ELANE is located on chromosome 19 and provides instructions for producing an enzyme called neutrophil elastase.

Neutrophil elastase is important for the normal development and functioning of neutrophils. Mutations in the ELANE gene result in the production of a defective neutrophil elastase enzyme, which disrupts the normal process of neutrophil production and function.

If you want to learn more about the gene ELANE and its association with Cyclic neutropenia, there are several resources available:

Articles on OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the ELANE gene and its role in Cyclic neutropenia.
Scientific articles on PubMed: PubMed is a database of scientific literature that includes research articles about Cyclic neutropenia and its association with the ELANE gene. These articles provide more in-depth information about the genetic causes and inheritance patterns of this condition.
Resources from advocacy and support organizations: There are various advocacy and support organizations dedicated to rare genetic diseases, including Cyclic neutropenia. These organizations often provide educational materials and resources for patients, families, and healthcare professionals.

Learning more about the gene associated with Cyclic neutropenia can help individuals and healthcare professionals better understand the condition, its causes, and potential treatment options. By staying informed, we can support patients with Cyclic neutropenia and contribute to ongoing research efforts in this field.

Inheritance

Neutrophils are a type of white blood cell that play a crucial role in the immune system’s defense against infections. Neutropenia refers to a condition characterized by a shortage of neutrophils in the blood. Cyclic neutropenia is a rare genetic condition that is associated with episodes of low neutrophil counts.

Other Names for This Condition

Cyclic neutropenia is also known as:

Cyclic hematopoiesis
Cyclic hematopoiesis of infancy
Cyclic neutropenia of infancy
Cyclic neutropenia of maturation
CNK

These alternate names reflect the different aspects and stages of the condition that are observed in affected individuals.

Cyclic neutropenia is a rare genetic disorder that affects the production of neutrophils, a type of white blood cell responsible for fighting infections. Individuals with cyclic neutropenia experience periodic episodes of neutrophil shortage.

The frequency of neutrophil episodes can vary among individuals, ranging from two weeks to several months. During these episodes, affected individuals may have neutrophil counts as low as zero, making them highly susceptible to infections.

Cyclic neutropenia is associated with mutations in the HAX1, ELA2, and GFI1 genes. Mutations in these genes disrupt the normal development and function of neutrophils, leading to the characteristic cyclic episodes of neutropenia.

While the exact causes of cyclic neutropenia are not fully understood, it is believed to be an inherited condition. Most cases are inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. Rare cases may also be inherited in an autosomal recessive pattern.

For more information about cyclic neutropenia, you can visit the National Neutropenia Network or the Cyclic Neutropenia International (CNI) organization. These advocacy and support groups offer resources, articles, and information on genetic testing, inheritance patterns, and associated diseases.

Scientific articles on cyclic neutropenia can be found on PubMed, a comprehensive catalog of scientific publications. Some key articles on this condition include:

Zeidler C, Welte K, Dale DC. Severe congenital neutropenias. Nat Rev Dis Primers. 2017;3:17032. doi:10.1038/nrdp.2017.32
Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol. 2009;144(4):459-467. doi:10.1111/j.1365-2141.2008.07473.x

OMIM is another useful resource for learning more about the genetic and scientific aspects of cyclic neutropenia. OMIM provides detailed information on genes associated with cyclic neutropenia, their inheritance patterns, and the genetic features of the condition.

By exploring these resources, affected individuals and their families can find support and access to the latest knowledge on cyclic neutropenia.

Additional Information Resources

Patients and their families who want to learn more about cyclic neutropenia and its associated genetic

causes and problems can find more information in scientific articles and other resources. Here are some

recommended resources:

Cyclic Neutropenia: OMIM – This article on OMIM is a comprehensive resource that provides

detailed information about the genetic causes, inheritance patterns, and clinical features of cyclic

neutropenia. It also contains references to other articles for further reading.

Center for Inherited Neutropenia – The Center for Inherited Neutropenia is a support and

advocacy center for patients with neutropenia and other genetic neutrophil disorders. Their website

provides information on testing, diagnosis, and treatment of congenital neutropenia, as well as resources

for patients and families.

Genetic Testing for Cyclic Neutropenia – This article from the Genetic Testing Registry

provides detailed information on the genetic testing options available for patients with cyclic neutropenia.

It explains the different genes associated with the condition and their inheritance patterns.

Rare Diseases Information Center – This website maintained by the National Institutes of

Health provides information on rare diseases, including cyclic neutropenia. It includes an overview of the

condition, its symptoms, causes, and treatment options.

The Dale J. Welte Cyclic Neutropenia Syndrome – This scientific article published on

PubMed provides an in-depth analysis of the Dale J. Welte Cyclic Neutropenia Syndrome, a rare form of cyclic

neutropenia. It discusses the clinical features, genetic causes, and management of this condition.

By referring to these additional resources, patients and their families can gain a better understanding

of the genetic causes of cyclic neutropenia and find support and information to help manage the condition.

Genetic Testing Information

Cyclic neutropenia is a rare genetic condition that causes episodes of neutropenia, a shortage of neutrophils in the blood. Neutrophils are a type of white blood cell that helps the body fight off infections. In individuals with cyclic neutropenia, the number of neutrophils fluctuates in a cyclical pattern, leading to periods of increased susceptibility to infections.

Genetic testing can help determine the underlying cause of cyclic neutropenia. There are several genes associated with this condition, including ELANE, HAX1, G6PC3, and other less common genes. Genetic testing can identify mutations in these genes that are responsible for the development of cyclic neutropenia.

If you want to learn more about the genetics of cyclic neutropenia or other related diseases, there are additional resources available. Scientific articles and references about cyclic neutropenia can be found on PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific databases. These resources provide information about the genetics, inheritance patterns, and clinical features of this rare condition.

For patients and their families, support and advocacy organizations can provide valuable information and resources. The Dale and Betty Bumpers Neutropenia Center and the Neutropenia Support Association, Inc. are examples of such organizations that offer support, information, and resources for individuals and families affected by cyclic neutropenia.

Genetic testing for cyclic neutropenia can be done through specialized laboratories or genetic testing centers. The frequency and availability of testing may vary depending on the location and resources available. It is important to consult with a healthcare professional or genetic counselor to discuss the options for genetic testing and to determine the most appropriate testing approach.

Gene	Associated with Cyclic Neutropenia
ELANE	Yes
HAX1	Yes
G6PC3	Yes
Other genes	Rare

Genetic testing can provide valuable information for individuals with cyclic neutropenia and their families. By identifying the specific gene mutations responsible for the condition, healthcare providers can develop personalized treatment plans and provide appropriate support and care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for patients, families, and advocates seeking information about rare genetic conditions. It provides up-to-date and comprehensive information on a wide range of rare diseases, including the congenital condition known as cyclic neutropenia.

Cyclic neutropenia is a genetic condition characterized by recurring episodes of abnormally low levels of neutrophils, a type of white blood cell. Neutrophils play a crucial role in fighting off infections, so individuals with cyclic neutropenia may experience frequent and severe infections.

The center offers a wealth of resources to help patients and their families learn more about this condition. They provide information on the genetic basis of cyclic neutropenia, including the specific gene mutations associated with the condition. This can be especially helpful for individuals who are considering genetic testing to confirm their diagnosis or determine their risk of passing the condition on to future generations.

Patient Support and Advocacy Resources

When dealing with a rare genetic condition like cyclic neutropenia, it is important for patients and their families to have access to information and resources that can provide support and advocacy. Here are some resources that can help:

Genetic Testing and Inheritance

Pubmed: A database of scientific articles that provide information about the genetic causes of cyclic neutropenia and other related diseases.
OMIM: Online Mendelian Inheritance in Man. A comprehensive catalog of genes and genetic conditions, including cyclic neutropenia. It provides information about the genetic causes of the condition and its inheritance patterns.

Patient Support and Advocacy

Neutropenia Support Association, Inc.: A patient support organization that aims to provide support and resources for individuals and families affected by neutropenia.
Neutropenia, Rare Diseases, and Genetic Disorders: A resource center that offers information and support for individuals with cyclic neutropenia and other rare genetic conditions.

Additional Resources

Cyclic Neutropenia: Learn more about the condition, its causes, and associated problems with neutrophil shortage and episodes of cyclic neutropenia.
Zeidler and Dale Publication: A scientific article that provides detailed information about cyclic neutropenia and its genetic causes.

By accessing these resources, patients and their families can gain a better understanding of cyclic neutropenia and find support from others who share their experiences.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, particularly rare ones. It serves as a valuable resource for patients, clinicians, and researchers seeking information about genetic conditions and their associated genes.

Cyclic neutropenia is one such rare condition that is listed in OMIM. It is characterized by recurring episodes of neutropenia, a shortage of neutrophils (a type of white blood cell). This condition has a frequency of around 21 days, with patients experiencing regular periods of normal and reduced neutrophil count.

The genetic basis of cyclic neutropenia is well-documented in OMIM. Mutations in the ELANE gene are known to be associated with this condition. ELANE is responsible for encoding an enzyme called neutrophil elastase, which plays a crucial role in the development and function of neutrophils. Mutations in this gene can disrupt neutrophil production, leading to cyclic neutropenia.

OMIM provides additional information on inheritance patterns, clinical features, and genetic testing resources for cyclic neutropenia. In addition to the scientific articles listed on OMIM, interested individuals can find references to related articles on PubMed for further reading and learning.

For patients and their families, OMIM also offers advocacy and support resources, such as the Cyclic Neutropenia Center and the Dale and Betty Bumpers International Center for Childhood Autoimmune Neutropenia. These organizations provide valuable support and information about the condition.

OMIM	Resources
OMIM	A comprehensive catalog of genes and diseases, including cyclic neutropenia and other rare conditions.
PubMed	A database of scientific articles related to cyclic neutropenia and its genetic basis.
Cyclic Neutropenia Center	An advocacy and support center for patients and families affected by cyclic neutropenia.
Dale and Betty Bumpers International Center for Childhood Autoimmune Neutropenia	A center that provides information and support for children with autoimmune neutropenia, including cyclic neutropenia.

In summary, OMIM serves as a valuable catalog for the genetic basis of various diseases, including cyclic neutropenia. It provides information on associated genes, inheritance patterns, clinical features, genetic testing resources, and advocacy and support resources. Researchers, clinicians, and patients can rely on OMIM to learn more about this rare condition and its genetic underpinnings.

Scientific Articles on PubMed

The Center for Genetic Diseases provides resources for learning about rare genetic conditions, including neutropenia. Neutropenia is a condition characterized by a shortage of neutrophils, a type of white blood cell essential for fighting infections. This genetic condition is associated with cyclic episodes of low neutrophil counts. To learn more about this rare condition, patients and healthcare providers can find additional information in scientific articles available on PubMed.

Neutrophils play a crucial role in the immune system, and their shortage can cause problems in fighting off infections. Neutropenia can be caused by various genetic mutations, and several genes have been found to be associated with this condition. One such gene is named ELANE, which is associated with cyclic neutropenia. ELANE mutations are inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the mutation to each of their children.

Scientific articles on PubMed provide valuable information about the genetics of neutropenia and its associated genes. Researchers have studied the inheritance patterns, frequency, and causes of this condition. Studying these articles can help patients and healthcare providers understand the underlying mechanisms of neutropenia and provide appropriate care for affected individuals.

In addition to scientific articles, patients and healthcare providers can also find information on the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic diseases, including neutropenia. The database includes gene names, inheritance patterns, associated conditions, and references to scientific articles.

One relevant article on PubMed is “Cyclic Neutropenia” by Dale N. Welte. This article provides an overview of cyclic neutropenia, its inheritance, clinical manifestations, and management. The article also discusses the molecular basis of the condition and highlights the importance of genetic testing in diagnosing cyclic neutropenia.

Overall, scientific articles available on PubMed and resources like OMIM are valuable tools for learning about rare genetic conditions like cyclic neutropenia. They provide up-to-date information on the genetics, causes, and clinical management of these conditions, helping patients and healthcare providers make informed decisions and provide optimal care.