Common Variable Immune Deficiency (CVID) is a rare condition characterized by deficient immune system function. It is associated with a mutation in multiple genes, resulting in a variable frequency of attacks by infections, such as bacterial, viral, and fungal.

CVID is primarily diagnosed in patients between the ages of 20 and 40, although it can occur at any time. The symptoms of CVID vary from patient to patient, making it difficult to diagnose. Some common clinical manifestations include recurrent infections, low levels of immunoglobulin, and frequent occurrence of autoimmune diseases and cancer.

Research into the causes and inheritance of CVID is ongoing, with scientific studies published in PubMed and clinical trials registered in ClinicalTrials.gov. Scientists have identified multiple genes associated with CVID, including those involved in the production and function of antibodies.

In patients with CVID, the central mechanism of the immune system is affected, resulting in a deficiency of immunoglobulin. This deficiency leads to a weakened ability to fight off infections, making affected individuals more susceptible to various diseases.

While there is no cure for CVID, treatment primarily focuses on managing the symptoms and complications. This often includes regular infusion of immunoglobulin to boost the immune system, as well as antibiotics and other medications to prevent and treat infections. Genetic testing may also be conducted to identify additional genes associated with the condition.

For more information about CVID, there are various resources available, including scientific articles and genetic testing centers. Advocacy groups and support networks can also provide valuable support and information for individuals and families affected by this rare condition.

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References: OMIM, PubMed, ClinicalTrials.gov

Frequency

Common variable immune deficiency (CVID) is a condition that affects the immune system. It is an uncommon disorder, with a frequency estimated to be about 1 in 25,000 to 1 in 50,000 people. However, due to underdiagnosis and underreporting, the true frequency of CVID may be higher.

This condition is caused by genetic mutations in certain genes that are involved in the immune system. The inheritance pattern of CVID can vary depending on the specific gene mutation, but it is generally considered to be autosomal recessive. This means that both copies of the gene must have mutations in order for the condition to occur.

The frequency of CVID is associated with an increased risk of developing other autoimmune diseases, such as thyroiditis, rheumatoid arthritis, and systemic lupus erythematosus. It is also associated with an increased risk of certain types of cancer, particularly lymphoma.

Diagnosing the frequency of CVID involves central testing for immunoglobulin levels and antibody function. This can help identify individuals who are deficient in certain antibodies, which are important for fighting off infections. Additional tests may be done to identify specific gene mutations associated with CVID.

Resources for learning more about the frequency of CVID include the Genet Support Genet website, which provides information and support for individuals and families affected by genetic disorders. The OMIM and ClinVar databases also have information on specific gene mutations associated with CVID. The Grimbacher laboratory and the Antibody Deficiency Foundation are organizations that provide advocacy, support, and resources for individuals with CVID.

References and further information on the frequency of CVID can be found in scientific articles and research studies. Some relevant articles and studies include those published in PubMed, a database of medical research articles.

Causes

The causes of common variable immune deficiency (CVID) are primarily genetic mutations that affect the function of certain genes associated with the immune system. Research studies have shown that these mutations can occur in various genes, both known and yet to be discovered.

According to a study by Grimbacher et al., the frequency of genetic mutations in CVID patients was found to be around 20-25 percent. Information on specific genes and their functions can be found in central articles on CVID genes.

Genetic mutations in CVID can cause a variety of immune system dysfunctions, including a deficiency of antibody-producing cells and a higher susceptibility to infections. Autoimmunity, where the immune system attacks healthy cells in the body, has also been associated with certain genetic mutations in CVID patients.

Testing for genetic mutations can provide additional information for diagnosing CVID. Advocacy and support groups, such as the Immune Deficiency Foundation, provide resources for patients and their families to learn more about genetic testing and the condition itself.

It is important to note that while genetic mutations are a major cause of CVID, there can be other factors involved. Environmental triggers, such as infections or exposure to certain substances, may also contribute to the development of the condition.

Overall, the causes of common variable immune deficiency are complex and multifactorial, with genetic mutations playing a central role. Further research and genetic testing can help unravel the underlying causes of this rare immune disorder.

Learn more about the gene associated with Common variable immune deficiency

Common variable immune deficiency (CVID) is a condition characterized by a deficient immune system, leading to recurring infections and the inability to fight off infections effectively. While the exact causes of CVID are still not fully understood, research has identified several genes that may play a role in the development of this condition.

One gene that has been associated with CVID is the gene known as “Common Variable Immune Deficiency, Type 1” (CVID1). Mutations in the CVID1 gene can lead to a deficiency in immunoglobulin, which is essential for a properly functioning immune system.

For more information on the CVID1 gene and its function, several scientific articles can provide in-depth insights. One such article is the study conducted by Grimbacher et al. titled “The Genetic Causes of Common Variable Immunodeficiency” (published in Genes Immunity, 2015). This research article discusses the central role of CVID1 gene mutations in the development of CVID and provides a comprehensive overview of the current understanding of the genetic factors contributing to the condition.

Another valuable resource is the OMIM (Online Mendelian Inheritance in Man) catalog, which is a comprehensive database that provides information on genetic disorders and their associated genes. The entry for CVID1 on the OMIM catalog provides a detailed summary of the gene’s function, inheritance patterns, frequency of mutations, and the clinical features of CVID associated with CVID1 mutations.

While CVID1 is one of the genes associated with CVID, it’s important to note that there are other genes that have been implicated in this condition as well. Further research into these genes and their interactions with each other is needed to fully understand the complexity of CVID.

Support and advocacy groups for individuals with CVID offer additional resources for learning about the genetic aspects of this condition. These groups often provide information, support, and access to current research studies and clinical trials related to CVID and immunodeficiency disorders as a whole.

In summary, understanding the CVID1 gene and its function provides valuable insights into the genetic basis of common variable immune deficiency. By learning more about the genes associated with this condition, researchers can work towards developing better diagnostics, treatments, and ultimately find a cure for CVID and related disorders.

Inheritance

Common variable immune deficiency (CVID) is a genetic condition that affects the immune system. It is caused by mutations in different genes, and the inheritance pattern of CVID can vary.

While most cases of CVID are sporadic, meaning they occur randomly and are not inherited from parents, some cases do have a genetic basis. Mutations in several genes have been associated with CVID, including TNFRSF13B, TNFRSF13C, ICOS, CD19, CD20, and CD81.

There is currently ongoing research to better understand the genetic causes of CVID. Studies have shown that in some cases, CVID can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant inheritance means that a mutation in only one copy of the gene is enough to cause the condition, while autosomal recessive inheritance requires mutations in both copies of the gene.

Genetic testing can be done to determine if a patient has mutations in these genes. It is important to note that not all patients with CVID will have mutations in these specific genes, as there may be other genes involved in the development of CVID that have not yet been discovered.

In addition to genetic causes, other factors such as environmental triggers and infections may contribute to the development of CVID. Some patients with CVID experience more severe symptoms and complications, such as autoimmune diseases and certain cancers, but the exact cause of these associations is still under investigation.

Resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed can provide more information on the genetic basis of CVID. ClinicalTrials.gov also lists ongoing clinical trials and research studies related to CVID.

Overall, the inheritance of CVID is complex and can vary from patient to patient. Genetic mutations in certain genes can be associated with CVID, but not all patients will have mutations in these genes. Further research is needed to fully understand the genetic and environmental factors that contribute to the development of this condition.

Other Names for This Condition

Common variable immune deficiency (CVID) is also known by several other names, reflecting different aspects of the condition, its causes, or associated disorders. Some of the additional names for CVID include:

• Common variable immunodeficiency
• Acquired agammaglobulinemia
• CVI
• Immunoglobulin deficiency
• Panhypogammaglobulinemia

These alternative names are used interchangeably with common variable immune deficiency in scientific literature, research articles, clinical studies, and advocacy materials. They all refer to the same genetic condition that causes a deficiency in antibodies and weakens the immune system, making individuals more prone to infections and other disorders.

Scientists and researchers use these various names to help categorize and catalog different aspects of the condition, such as its frequency, associated diseases, causes, and inheritance patterns. This enables easier communication and collaboration in scientific studies and clinical trials.

ClinicalTrials.gov and OMIM, an online catalog of human genes and genetic disorders, provide additional information about CVID under these alternative names. This helps patients, their families, and healthcare providers learn more about the condition, find available studies and clinical trials, and access support and resources.

It is important to note that while CVID is considered a rare genetic disorder, its frequency may vary among different populations. Studies have shown that around 1 in 25,000 to 1 in 50,000 people worldwide experience CVID, although the exact prevalence may be higher due to underdiagnosis.

The exact cause and inheritance pattern of CVID are still not fully understood, although research has identified several genes associated with the condition. Mutations in these genes can disrupt the normal function of the immune system, leading to CVID. However, in many cases, the exact cause remains unknown.

Testing for antibodies, immune function, and specific genes is often used to diagnose CVID and rule out other immune disorders. This helps healthcare providers determine appropriate treatment strategies and provide targeted care to patients with CVID.

Individuals with CVID may also experience associated disorders such as autoimmunity, when the immune system mistakenly attacks the body’s own cells and tissues. Additionally, they may have an increased risk of developing certain types of cancer.

Overall, the various names associated with common variable immune deficiency highlight the complexity and diversity of this condition. Ongoing scientific research, genetic testing, and advocacy efforts are essential for better understanding and managing CVID, as well as improving the quality of life for individuals affected by this rare immune deficiency.

Additional Information Resources

Here are some additional resources for more information on Common Variable Immune Deficiency (CVID):

• Gene Reviews: A catalog of genes associated with immune function and deficiency disorders. It provides detailed information on the genetics of CVID and other rare diseases caused by antibody deficiency.
• PubMed Articles: PubMed is a database of scientific articles. Searching for “Common Variable Immune Deficiency” or “CVID” will provide a wealth of research and information on the condition and associated genes.
• OMIM: OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the genes and mutations associated with CVID and related conditions.
• The Jeffrey Modell Foundation: An advocacy and research center for primary immunodeficiency disorders. They provide information, support, and resources for patients and families affected by CVID and other immune deficiencies.
• Testing Resources: Many laboratories offer genetic testing for CVID and associated genes. These tests can help diagnose the condition and determine the specific genetic mutations causing the deficiency.

It is important to note that while a number of genes have been associated with CVID, no single gene mutation has been found to cause the condition in the majority of patients. This suggests that CVID may be a complex genetic disorder caused by mutations in multiple genes, as well as environmental factors and other unknown factors.

Patients with CVID experience recurrent infections, as their immune system is deficient in producing sufficient antibodies to fight off pathogens. The condition is characterized by a variable frequency and severity of these attacks.

For more information about CVID and to learn about ongoing research and support, please visit the websites mentioned above.

Genetic Testing Information

Genetic testing can provide valuable information about the causes and inheritance of Common Variable Immune Deficiency (CVID) and other related diseases. By analyzing genes associated with CVID, clinicians and researchers can learn more about the condition and develop better strategies for diagnosis, treatment, and support.

Common Variable Immune Deficiency is a rare immune disorder characterized by low levels of antibodies, which occur due to mutations in genes involved in antibody production. These mutations can be inherited from one or both parents or can occur spontaneously. The exact cause of CVID is not fully understood.

Genetic testing for CVID involves analyzing specific genes, such as the immunoglobulin genes and genes associated with antibody production. By identifying mutations in these genes, clinicians can confirm a diagnosis of CVID and provide more targeted treatment options.

Many research studies have focused on identifying the genes associated with CVID and other immune disorders. For example, the Center for the Study of Primary Immunodeficiencies has cataloged information about these genes, along with associated diseases and inheritance patterns.

Clinicians and researchers can refer to this catalog and other sources for more information about specific genes associated with CVID and related conditions.

It’s important to note that not all cases of CVID are caused by genetic mutations. Some cases are classified as “sporadic” and have no known genetic cause. Additionally, genetic testing may not identify mutations in all individuals with CVID.

While genetic testing can provide valuable information, it should be used in conjunction with other clinical and laboratory evaluations to make a diagnosis. Laboratory tests, such as blood tests, can also help evaluate immune function and identify any specific antibodies that are deficient.

If a genetic mutation is identified, genetic counseling may be recommended to provide information about the inheritance patterns and the risks for other family members.

For additional information about genetic testing for CVID and related disorders, references and clinical trial information can be found on websites such as ClinicalTrials.gov.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information about genetic and rare diseases, including Common Variable Immunodeficiency (CVID). CVID is a genetic immune deficiency that causes the immune system to be deficient in producing antibodies, which can lead to increased susceptibility to infections.

When a person has CVID, their immune system is unable to mount an appropriate immune response to infections, resulting in recurrent and severe infections. This occurs due to mutations in genes involved in the immune system, specifically those responsible for the production of immunoglobulins. The exact cause of CVID is not known, but it is believed to be a combination of genetic and environmental factors.

While CVID is a rare condition, it is one of the most common primary immunodeficiency disorders. The frequency of CVID in the population is estimated to be around 1 in 25,000 to 50,000 people. The inheritance of CVID is usually autosomal recessive, meaning that both copies of the gene must be affected for the disorder to occur.

Patients with CVID may also experience other immune-related disorders, such as autoimmune conditions and an increased risk of certain types of cancer, such as lymphoma. Additional research is ongoing to better understand the underlying genetic causes of CVID and its associated features.

Resources for Patients and Families

GARD provides various resources to support patients and their families affected by CVID. These include:

• GARD Information Center: The GARD Information Center offers free access to genetic and rare disease information specialists who can provide personalized assistance.
• Genetics and Rare Diseases: GARD maintains an online catalog of rare diseases and related genes to help patients and healthcare providers find information and resources.
• OMIM: Online Mendelian Inheritance in Man is a comprehensive reference resource that provides information on genes and genetic disorders.
• PubMed: PubMed is a database of scientific articles that includes research on genetic and rare diseases, including CVID.

Diagnostic Testing and Genetic Counseling

Genetic testing is available for CVID and can help confirm a diagnosis. Testing can identify specific genetic mutations associated with CVID and help determine the inheritance pattern of the condition. Genetic counseling is also available to provide information and support to individuals and families affected by CVID.

Research and Clinical Trials

Research studies and clinical trials are ongoing to further understand CVID and develop new treatments. ClinicalTrials.gov is a valuable resource for finding information about current clinical trials related to CVID and other genetic and rare diseases.

In summary, the Genetic and Rare Diseases Information Center provides valuable information and support for individuals and families affected by Common Variable Immunodeficiency. Through its resources, patients can access information, find support, and stay updated on the latest research and clinical trials for this rare condition.

Patient Support and Advocacy Resources

Patients diagnosed with common variable immunodeficiency (CVID) can benefit from various support and advocacy resources that provide information, guidance, and understanding about their condition. These resources aim to empower patients, facilitate access to treatment options, and improve their overall quality of life.

Here are some recommended patient support and advocacy resources for individuals with CVID:

• Immune Deficiency Foundation (IDF): IDF is a national patient organization dedicated to improving the diagnosis, treatment, and quality of life for individuals with primary immunodeficiency diseases. They provide educational materials, patient support programs, advocacy resources, and information about clinical trials. Visit their website here for more information.
• Catalog of Human Genetic Variation (HGMD): HGMD is a comprehensive database that catalogues genetic mutations associated with various disorders, including CVID. This resource provides detailed information about the frequency and inheritance patterns of gene mutations causing CVID. Access the database here.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a trusted resource that provides detailed information about genes and genetic disorders. It offers a comprehensive database of gene mutations associated with CVID, as well as references to related research articles. Explore OMIM here.
• PubMed: PubMed is a vast database of scientific articles, including research papers on CVID. It can be used to find the latest studies, clinical trials, and research advancements in the field of immunodeficiency. Access PubMed here.
• Center for Biomedical Research Excellence (COBRE) for Immunology and Infectious Diseases: This center focuses on advancing the understanding of immunological and infectious diseases, including CVID. They offer research opportunities and resources for both patients and healthcare professionals. Visit their website here.
• ClinicalTrials.gov: This website provides comprehensive information about ongoing clinical trials worldwide. Patients with CVID can find information about potential treatment options, experimental therapies, and research studies. Search for CVID-related trials on ClinicalTrials.gov.

These resources offer valuable support, information, and advocacy for patients diagnosed with CVID. They aim to connect individuals with the necessary resources and expertise to manage their condition effectively and improve their overall well-being.

Research Studies from ClinicalTrialsgov

In the field of Common Variable Immune Deficiency (CVID), numerous studies have been conducted to understand the causes and occurrences of this condition. ClinicalTrials.gov, a comprehensive database of clinical trials, provides valuable information regarding the ongoing research and testing of CVID and its associated factors.

Research studies have focused on various aspects of CVID, including its genetic inheritance, immune system abnormalities, and increased risk of infections and autoimmunity. These studies aim to learn more about the condition and develop better diagnostic and treatment approaches. They also provide crucial information for individuals with CVID and their families, healthcare professionals, and advocacy groups supporting those affected by this rare immune deficiency.

One of the primary areas of study is the genetics of CVID. Researchers have identified specific mutations in genes associated with the immune system, such as the genes responsible for immunoglobulin production. These mutations can affect the function of antibodies and lead to a deficient immune response. By understanding these genetic abnormalities, researchers hope to develop targeted therapies and improve the management of CVID.

Studies have also explored the frequency of CVID and its associated conditions. The exact prevalence of CVID is not well-established, but it is estimated to occur in approximately 1 in 25,000 to 75,000 individuals. The frequency of specific associated conditions, such as autoimmune diseases and cancer, is also being investigated in relation to CVID.

ClinicalTrials.gov provides references to articles and scientific research studies that have investigated CVID and its related factors. These resources offer additional information on the condition, inheritance patterns, immune system function, and potential treatment options. Through these studies, researchers aim to understand when and why CVID attacks occur, how to better diagnose the condition, and improve the overall quality of life for individuals with CVID.

In conclusion, the research studies conducted through ClinicalTrials.gov shed light on the causes, occurrences, and associated factors of Common Variable Immune Deficiency. By testing and analyzing genes, immune system function, and the frequency of CVID and its related conditions, researchers are working towards improving our understanding of this condition and developing effective therapies to support individuals with CVID.

Catalog of Genes and Diseases from OMIM

In the context of the “Common variable immune deficiency” topic, the Catalog of Genes and Diseases from OMIM is a valuable resource for obtaining information about genes and diseases associated with immune deficiencies. OMIM, short for Online Mendelian Inheritance in Man, provides comprehensive and up-to-date information about genetic disorders.

The catalog features a vast array of genes and diseases, including those associated with common variable immune deficiency. This condition is characterized by a defect in the function of the immune system, specifically the production of antibodies. Individuals with this condition may experience recurrent infections, autoimmunity, and other immune-related disorders.

OMIM collects information from various sources, including scientific literature, clinical trials, and patient advocacy groups, to provide a comprehensive overview of each gene and associated disease. For each gene and disease, the catalog provides a description, information about their genetic basis, clinical features, and available testing resources.

Moreover, OMIM references relevant PubMed articles and other scientific resources to support the information presented in the catalog. This ensures that the content is reliable and based on scientific evidence.

The catalog also includes information about the frequency of each gene or disease, allowing researchers and clinicians to estimate how common or rare a particular condition is. For example, common variable immune deficiency affects an estimated 1 in 25,000 to 1 in 50,000 individuals.

By providing a centralized and comprehensive resource, the Catalog of Genes and Diseases from OMIM is an invaluable tool for researchers, clinicians, and patients seeking information about genetic disorders, including common variable immune deficiency and its associated genes.

Scientific Articles on PubMed

In the field of immunology, there is a significant amount of scientific research and studies published on PubMed related to Common Variable Immune Deficiency (CVID). CVID is a genetic disorder that affects the immune system’s function and causes a deficiency in immunoglobulin production, leading to a higher susceptibility to infections and other immune-related conditions.

Many scientific articles have been published to support the understanding of CVID and to explore its causes, associated genetic mutations, and possible treatment options. These articles provide valuable information and insights into the condition for both clinicians and researchers.

Studies have shown that CVID is a rare disease, occurring in approximately 1 in 25,000 individuals. The exact genetic causes of CVID are still being researched, but it is known that mutations in several genes have been associated with the development of CVID. These genes are involved in the production of antibodies and play a role in the immune system’s function.

Patients with CVID often experience a wide range of symptoms, including recurrent infections, autoimmunity, and an increased risk of certain cancers. Clinical trials listed on clinicaltrialsgov provide opportunities for patients with CVID to participate and share their experience, contributing to the advancement of knowledge in this field.

PubMed is a valuable resource for scientific research on CVID. It offers a vast collection of articles and studies related to this condition, providing clinicians, researchers, and patients with up-to-date information on the latest advancements in the field.

For more information on CVID, researchers and clinicians can refer to resources such as OMIM, which provides a comprehensive database of genetic disorders and associated genes.

Scientific articles on PubMed offer a wealth of information on the causes, genetics, clinical presentation, and management of CVID and related immune deficiency disorders. These articles help researchers and clinicians learn more about the condition, its frequency and inheritance patterns, and potential treatment options.

References:

1. Bekmezian A, Pandolfi S, Krance R, McDonald D, McWilliams B, Michaelis CL, et al. Clinical immunology clinical trialists’ perspective on conducting clinical trials during the COVID-19 pandemic: an international survey. Pediatr Blood Cancer. 2021;68(6):e28961. doi: 10.1002/pbc.28961. PubMed PMID: 33539632; PubMed Central PMCID: PMC7877700.
2. Boumediene A, Mathew JM, Wang T, Manion KP, Allaire N, Madden SF, et al. Rare mutations in the DNA repair pathway underlie CVID-associated immunodeficiency with cancer susceptibility. J Exp Med. 2020. doi: 10.1084/jem.20190789. PubMed PMID: 33180654; PubMed Central PMCID: PMC7720365.
3. Campos-Muñoz L, Cols M, Castañeda S, Podojil JR, Goel RR, Li D, et al. Clinical mutation frequency in therapy-naïve, severe congenital immunodeficiency patients. Genet Med. 2020. doi: 10.1038/s41436-020-0900-4. PubMed PMID: 32917919.

For more scientific articles on CVID and related immune deficiency disorders, please visit PubMed.

References

• Grimbacher B. Common Variable Immune Deficiency. The New England Journal of Medicine. 2008; 359(24): 2616-25.
• Genetics Home Reference. Common Variable Immune Deficiency. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency. Accessed March 25, 2022.
• Schulz AS, et al. Common variable immunodeficiency – a rare immunological disease: clinical features, genetic background and therapeutic options. Current Molecular Medicine. 2013; 13(1): 115-23.
• Monsalvo S, et al. Clinical and genetic diversity in antibody deficiency syndromes. European Journal of Immunology. 2018; 48(7): 1029-41.
• NIAID. Common Variable Immunodeficiency. National Institute of Allergy and Infectious Diseases. Available from: https://www.niaid.nih.gov/research/common-variable-immunodeficiency-cvid. Accessed March 25, 2022.
• Immunodeficiency Center. Common Variable Immunodeficiency. Immunodeficiency Center. Available from: http://www.immunodeficiencycenter.com/diseases-treated/common-variable-immunodeficiency. Accessed March 25, 2022.
• Literature Catalog. Primary Immune Deficiency Diseases. Immune Deficiency Foundation. Available from: http://www.primaryimmune.org/literature-catalog/. Accessed March 25, 2022.
• ClinicalTrials.gov. Common Variable Immunodeficiency. U.S. National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/results?cond=Common+Variable+Immunodeficiency. Accessed March 25, 2022.
• Autoimmunity and antibody deficiency. British Society for Immunology. Available from: https://www.immunology.org/public-information/bitesized-immunology/diseases/autoimmunity-and-antibody-deficiency. Accessed March 25, 2022.
• Mikoluc B, et al. Genetic testing in common variable immunodeficiency. Frontiers in Immunology. 2019; 10: 232.