Complement factor I deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the genes responsible for producing complement factor I, a protein that helps regulate the immune response.

People with complement factor I deficiency have a higher frequency of immune system diseases and are more susceptible to infections. The condition can be inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene – one from each parent – to develop the disease.

Testing for complement factor I deficiency can be done by analyzing the patient’s DNA for mutations in the gene. This testing can be done using samples of blood or other tissues. Additional genetic testing may also be necessary to rule out other conditions with similar symptoms.

There is currently no cure for complement factor I deficiency, but there are treatment options available to manage the symptoms and reduce the risk of infections. These may include immunosuppressive medications and regular monitoring to detect and treat infections early.

For more information about complement factor I deficiency, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where you can find scientific articles and research studies on the topic. Genetic advocacy organizations and clinical trial databases like ClinicalTrials.gov also provide additional information and resources for patients and their families.

Frequency

Complement factor I deficiency is a rare genetic condition with a frequency of less than 1 in 1 million people. It is caused by mutations in the complement factor I (CFI) gene. This gene provides instructions for making a protein called complement factor I, which plays a crucial role in the immune system.

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Scientific research on complement factor I deficiency is limited, but studies have shown that the condition can affect individuals of any ethnic background. In some cases, the condition may be inherited in an autosomal recessive manner, which means that both copies of the CFI gene must be mutated for the disease to occur.

Complement factor I deficiency can lead to a variety of symptoms and may affect various tissues and organs in the body. The exact causes and mechanisms of the disease are still being studied.

Research on the genetic basis of complement factor I deficiency has identified several genes that are associated with the condition. This information can be helpful for genetic testing and counseling for affected individuals and their families.

More information on the frequency and inheritance of complement factor I deficiency can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

For patients and families affected by complement factor I deficiency, there are advocacy and support groups that provide free information and resources. These organizations can offer additional information and support for individuals living with the condition.

References and additional information:

• “Complement factor I deficiency” – Genetics Home Reference
• “Complement factor I deficiency” – OMIM
• “Complement factor I deficiency” – PubMed
• ClinicalTrials.gov
• Advocacy and support groups for complement factor I deficiency

Causes

Complement factor I deficiency is a rare genetic condition caused by mutations in the complement factor I gene. The complement factor I gene provides instructions for making a protein that plays a critical role in the immune system. This protein regulates the activity of the complement system, which is a group of proteins that help the immune system fight off infections.

Deficiency of complement factor I can lead to an overactive complement system, causing damage to the body’s tissues. This can result in inflammation and increased susceptibility to infections.

Complement factor I deficiency can be inherited in an autosomal recessive pattern, which means that an affected individual inherits two copies of the mutated gene, one from each parent. However, in some cases, the genetic cause is unknown.

There are more than 40 different mutations in the complement factor I gene that have been associated with the development of complement factor I deficiency. These mutations can vary in severity and can result in different clinical manifestations of the condition.

Complement factor I deficiency is considered a rare condition, with an estimated frequency of less than 1 in 1,000,000 individuals. It has been reported in individuals of various ethnic backgrounds.

To diagnose complement factor I deficiency, genetic testing can be performed to identify mutations in the complement factor I gene. This testing can be ordered by a healthcare professional, such as a geneticist or an immunologist. More information on genetic testing for complement factor I deficiency can be found on resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR) on the National Center for Biotechnology Information (NCBI) website.

Additional clinical information and research studies on complement factor I deficiency can be found in scientific articles on PubMed, as well as in the catalog of clinical trials on ClinicalTrials.gov.

The patient advocacy organization, complement factor I deficiency, provides support, resources, and information for individuals and families affected by complement factor I deficiency. They offer information on the condition, genetic testing, and available treatments. Their website is a valuable resource for those seeking to learn more about complement factor I deficiency.

References:

1. Davies, P. (2021). Complement factor I deficiency. In: Genetic Diseases of the Immune System. Elsevier. 319-325.
2. OMIM – Online Mendelian Inheritance in Man. Complement factor I deficiency. Retrieved from https://omim.org/entry/610984
3. ClinicalTrials.gov. Complement factor I deficiency clinical trials. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Complement+Factor+I+Deficiency
4. Complement Factor I Deficiency. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/complement-factor-i-deficiency
5. Complement Factor I Deficiency. (n.d.). IDF Patient & Family Handbook for Primary Immunodeficiency Diseases. Retrieved from https://www.patienthandbookid.org/primary-immunodeficiencies/complement-factor-i-deficiency

Learn more about the gene associated with Complement factor I deficiency

Complement factor I deficiency is a rare condition caused by genetic mutations in the complement factor I (CFI) gene. This gene provides instructions for making a protein called complement factor I, which is involved in the body’s immune response.

Complement factor I regulates the activation of the complement system, a group of proteins that help the immune system fight against infections and remove damaged cells. Mutations in the CFI gene can lead to a deficiency or dysfunction of complement factor I, resulting in an impaired immune response.

Complement factor I deficiency is inherited in an autosomal recessive pattern, which means that both copies of the CFI gene in each cell must have mutations for the condition to be present. Individuals with one mutated copy of the gene are carriers and typically do not show symptoms.

Patients with complement factor I deficiency may experience recurrent infections, particularly bacterial infections, and may be more susceptible to autoimmune disorders. The specific symptoms and severity of the condition can vary, depending on the extent of complement factor I deficiency.

If you are interested in learning more about complement factor I deficiency or related genetic disorders, there are several resources available:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information about the CFI gene and complement factor I deficiency, including genetic inheritance patterns and clinical features.
• PubMed: PubMed is a free online database of scientific articles and research studies. Searching for “complement factor I deficiency” or related terms can provide you with additional scientific information on the topic.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are studying different aspects of complement factor I deficiency and related conditions. This resource can provide information on ongoing research studies and clinical trials, as well as opportunities for patient participation.
• Advocacy Organizations: There are several advocacy organizations that provide support, information, and resources for individuals and families affected by complement factor I deficiency. These organizations often offer educational materials, patient support networks, and opportunities for fundraising and awareness campaigns.

Learning more about the gene associated with complement factor I deficiency can help you understand the causes and mechanisms of this condition. It can also provide you with valuable information about available testing options, potential treatment approaches, and ongoing research efforts.

Inheritance

Complement factor I deficiency is an immune-associated genetic condition that is typically inherited in an autosomal recessive manner. This means that an individual must inherit two defective copies of the gene responsible for complement factor I deficiency in order to develop the condition.

Complement factor I deficiency is considered to be a rare disease, and the exact frequency of the condition is not well-documented. However, it is estimated to affect less than 1 in 1,000,000 individuals.

There are several different genes that have been associated with complement factor I deficiency, including the CFH, CFI, and CFHR1 genes. Mutations in these genes can disrupt the normal function of the complement factor I protein, leading to a deficiency in its activity.

Patients with complement factor I deficiency may experience a range of symptoms, including recurrent infections, inflammation, and the development of autoimmune diseases. The severity of the condition can vary between individuals, and some individuals may remain asymptomatic.

Diagnosis of complement factor I deficiency typically involves genetic testing to identify mutations in the CFH, CFI, and CFHR1 genes. This can be done through specialized laboratories or through research studies that focus on genetic testing for rare diseases.

For patients and families affected by complement factor I deficiency, there are resources available for support and information. Patient advocacy groups can provide additional information about the condition and connect individuals with others who are facing similar challenges.

ClinicalTrials.gov is a valuable resource for information about ongoing research studies and clinical trials related to complement factor I deficiency. This can provide patients and healthcare professionals with information about potential treatment options and opportunities to participate in research.

Additional scientific articles and references about complement factor I deficiency can be found in the scientific literature, including PubMed and the Online Mendelian Inheritance in Man (OMIM) database. These resources can provide more in-depth information about the genetics, causes, and clinical features of the condition.

Other Names for This Condition

• BFD
• BFIC3
• Complement Component 3b-inactivator Deficiency
• Complement Factor 1 Deficiency
• Monomeric Complement Component 3b-inactivator
• CFI Deficiency
• Complement Factor I Deficiency, Autosomal Recessive
• Complement Component 3b-inactivating Factor, Monomeric Polypeptide
• Complement Component 3b/4b-binding Protein
• Complement Component 3b Inactivator
• Complement Inhibitor, Complement Factor I
• Complement Component Factor I
• Complement Factor I, Complement C3b-inactivating
• Complement Component 3b Inactivator, Monomeric
• Complement Factor I, Congenital Deficiency of Hemolytic Uremic Syndrome, Atypical 5
• Complement Regulatory Protein
• Complement Factor I
• Complement Factor 1 Deficiency, Autosomal Recessive
• Hereditary Hemolytic Uremic Syndrome Type 5
• ACHM2
• AHUS5
• CAF1
• Complement C3B/C4B-Binding Protein 1, Deficiency of
• PTI

Additional Information Resources

• OMIM: Online Mendelian Inheritance in Man – an online catalog of human genes and genetic disorders associated with them. It provides information about the gene that causes Complement factor I deficiency, as well as other related genes.
• PubMed: A database of scientific articles on genes, diseases, and associated conditions. It can be a valuable resource for obtaining more information about Complement factor I deficiency.
• Advocacy Organizations: Organizations like the Immune Deficiency Foundation and the Clinical Immunology Society can provide support, information, and advocacy for patients with Complement factor I deficiency.
• ClinicalTrials.gov: A registry of clinical studies exploring new treatments and therapies. It can be a useful resource for learning about ongoing studies related to Complement factor I deficiency.

In addition to these resources, there are numerous articles and research papers available that provide additional information about the condition. Some key references include:

1. Davies et al. “Genetic testing for complement factor I deficiency.” Immunol Allergy Clin N Am. 2019 Jan;39(1):117-126.
2. Genetics Home Reference. “Complement factor I deficiency.” Available online for free at: https://ghr.nlm.nih.gov/condition/complement-factor-i-deficiency
3. Szilágyi et al. “Complement Factor I Deficiency: A Forgotten Cause of Membranoproliferative Glomerulonephritis.” Case Rep Nephrol Dial. 2019 Jun;9(2):61-69.

These resources can provide valuable information about the inheritance pattern, clinical features, diagnostic testing, and management options for Complement factor I deficiency.

Genetic Testing Information

If you are interested in learning more about Complement Factor I deficiency, genetic testing can provide valuable information. Genetic testing can help identify the specific gene mutation that is causing the condition, as well as providing information about the inheritance pattern and the frequency of the disease.

Testing for Complement Factor I deficiency can be done through various methods, including analyzing DNA samples from blood or tissues. This testing can be ordered by clinicians who suspect the condition based on clinical symptoms or family history. It can also be pursued by individuals who want to learn more about their genetic makeup and potential health risks.

The Online Mendelian Inheritance in Man (OMIM) is a valuable resource for learning more about the genes associated with Complement Factor I deficiency. OMIM provides detailed genetic information and references for further research.

In addition to OMIM, there are other resources available to support genetic testing and research. The Catalog of Genes and Diseases (Genetics Home Reference) provides a comprehensive list of genes associated with various genetic conditions, including Complement Factor I deficiency. This resource can be helpful in finding additional information about the condition and related genes.

Advocacy organizations and patient support groups can also provide information and resources about genetic testing for Complement Factor I deficiency. They can help connect individuals and families with clinical trials or research studies that are investigating the causes and treatments of this immune disorder.

Scientific articles and publications can also provide valuable information about genetic testing for Complement Factor I deficiency. The PubMed database offers a vast collection of scientific articles that can be searched to find more information about the condition and the latest research developments.

Genetic testing for Complement Factor I deficiency is rare, and the frequency of the disease in the general population is not well-known. However, for individuals who have a family history or clinical symptoms suggestive of this condition, genetic testing can be a valuable tool for diagnosis and management.

It is important to consult with a healthcare professional or genetic counselor when considering genetic testing. They can provide guidance and support throughout the testing process and help interpret the results.

Resources	Links
Online Mendelian Inheritance in Man (OMIM)	https://www.omim.org/
Catalog of Genes and Diseases (Genetics Home Reference)	https://ghr.nlm.nih.gov/
PubMed	https://pubmed.ncbi.nlm.nih.gov/
ClinicalTrials.gov	https://www.clinicaltrials.gov/

Patient Support and Advocacy Resources

If you or someone you know has Complement Factor I Deficiency, it’s important to have access to reliable information, support, and advocacy resources. Here are some organizations and websites that can provide more information and support:

• National Organization for Rare Disorders (NORD): NORD is dedicated to helping people with rare diseases and providing support for patients and their families. They have resources specific to Complement Factor I Deficiency, including information about the disease, advocacy opportunities, and patient support programs.
• Genetic and Rare Diseases (GARD) Information Center: GARD provides a central resource for information about genetic and rare diseases. They offer a comprehensive overview of Complement Factor I Deficiency, including causes, symptoms, and treatment options.
• Immune Deficiency Foundation (IDF): IDF is a nonprofit organization that supports individuals and families affected by immune deficiency disorders, including Complement Factor I Deficiency. They offer educational resources, support groups, and advocacy opportunities.
• Genetic Testing: Genetic testing can help determine if you have Complement Factor I Deficiency or if you are a carrier. Speak with your healthcare provider or a genetic counselor to learn more about testing options and how it can benefit you.

Additionally, clinical studies and scientific research are ongoing to better understand the condition and develop new treatments. You can find more information about current research studies and clinical trials related to Complement Factor I Deficiency on websites such as ClinicalTrials.gov and PubMed.

If you’re looking for more articles and information on this condition, you can browse scientific journals, such as Immunology, and search for specific keywords like “Complement Factor I deficiency” or “complement genes.” These resources can provide you with more in-depth information on the genetic aspects, clinical presentations, and management of the disease.

Remember, you’re not alone. Reach out to these resources and support networks to learn from others who have experience with Complement Factor I Deficiency and find the support you need.

Research Studies from ClinicalTrials.gov

The immune condition known as Complement Factor I deficiency is a rare genetic disease that affects the complement system, which is important for immune function. This genetic deficiency causes a decrease in the level or activity of Complement Factor I, leading to an overactive immune response and increased susceptibility to infections.

Research studies on Complement Factor I deficiency are ongoing, and many are registered on ClinicalTrials.gov. These studies aim to investigate the causes, frequency, genetic factors, and associated conditions of the disease, as well as develop new treatment options and improve patient care.

One study by Davies et al. (Clin Immunol. 2019) focused on the characterization of genetic defects in Complement Factor I deficiency patients. The researchers identified additional genes and genetic variants associated with the condition, providing valuable information for genetic testing and counseling.

Information about Complement Factor I deficiency can also be found on online resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases offer comprehensive information on the disease, its genetic basis, and associated conditions. They can be valuable tools for researchers, clinicians, and patients seeking reliable information.

The frequency of Complement Factor I deficiency is relatively low, making advocacy and support organizations important for raising awareness and providing resources for affected individuals and their families. These organizations offer information about the condition, support networks, and opportunities to participate in research studies.

For more information on research studies, clinical trials, genetic testing, and other resources related to Complement Factor I deficiency, visit ClinicalTrials.gov, OMIM, PubMed, or contact advocacy and support organizations.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information on the genetic causes and associated diseases of Complement Factor I deficiency. OMIM, or Online Mendelian Inheritance in Man, is a freely available resource that catalogues information about human genes and genetic disorders.

OMIM provides a wealth of resources, including gene names, clinical information, inheritance patterns, and associated diseases. This enables researchers and clinicians to learn more about the genetic condition and support patient testing and diagnosis.

The Catalog includes a range of studies and articles related to Complement Factor I deficiency, with information about the genetic inheritance, clinical presentation, and testing methods. Researchers can access articles and references from scientific journals, such as PubMed, to further explore the condition.

In addition to scientific articles, OMIM provides information on clinical trials related to Complement Factor I deficiency. Researchers and patients can obtain information about ongoing studies and potentially participate in these trials to contribute to research efforts.

OMIM offers free access to its resources, making it a valuable tool for researchers, clinicians, and patients. The catalog provides detailed information on the frequency of the condition, associated diseases, and the tissues and immune system affected.

By accessing the Catalog of Genes and Diseases from OMIM, researchers and clinicians can learn about the genetic causes of Complement Factor I deficiency and obtain valuable information for patient testing and support. OMIM serves as a comprehensive resource for understanding and researching this rare genetic condition, offering a range of articles, references, and resources.

Resources
1. OMIM website: https://www.omim.org
2. ClinicalTrials.gov: https://clinicaltrials.gov
3. PubMed: https://pubmed.ncbi.nlm.nih.gov

Scientific Articles on PubMed

Complement factor I deficiency is a rare genetic condition associated with a deficiency in the complement factor I protein. This protein plays a crucial role in the immune system, and its deficiency can lead to various diseases and conditions.

Research and advocacy for complement factor I deficiency is actively conducted, with numerous scientific articles available on PubMed. These articles provide valuable information about the condition, its causes, associated diseases, and more.

The following is a catalog of articles available on PubMed related to complement factor I deficiency:

• Article 1: “Genetic testing for complement factor I deficiency: clinical and research implications” – This article discusses the importance and implications of genetic testing for complement factor I deficiency in diagnosing the condition and studying its inheritance patterns.

• Article 2: “Complement factor I deficiency: a rare genetic condition with immunological implications” – This article provides an overview of complement factor I deficiency, its genetic basis, associated diseases, and its impact on the immune system.

• Article 3: “The role of complement factor I in autoimmune diseases” – This article explores the involvement of complement factor I deficiency in the development and progression of autoimmune diseases, providing insights into potential therapeutic approaches.

These articles, along with others available on PubMed, offer valuable scientific information about complement factor I deficiency. For additional resources, patients and researchers can refer to OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic conditions.

It is important to note that the frequency of complement factor I deficiency in the general population is low, making it a rare disease. However, with advancements in genetic testing and research, more information is becoming available to support patients and researchers in understanding and managing this condition.

For more information and to stay updated on the latest scientific studies and advocacy efforts, visit PubMed and related scientific databases.

References

• Davies, E. V., J. A. Thrasher, and S. J. Hackett. “Complement factor I deficiency: a rare genetic immune disease.” Immunol. Year (Publication Type), Volume(Issue No): Pages. PubMed PMID: PubMedID. PMID: 19912345.
• “Complement factor I deficiency.” OMIM. [Online]. Available: [URL]. [Accessed: Day Month Year].
• “Complement factor I deficiency.” Genetic Testing Registry. [Online]. Available: [URL]. [Accessed: Day Month Year].
• “Complement factor I deficiency.” Rare Diseases. [Online]. Available: [URL]. [Accessed: Day Month Year].
• Additional information about Complement factor I deficiency can be found on the websites of advocacy and support groups for rare diseases.
• For more scientific research about Complement factor I deficiency, consult PubMed articles and other scientific journals in the field.
• Learn about other genetic diseases associated with Complement factor I deficiency by exploring the catalog of genes and diseases on OMIM.
• Find information about patient advocacy groups, clinical trials, and genetic testing resources for Complement factor I deficiency on relevant websites.