Expert Reviewed By: Dr. Brandon Colby MD
Combined subtotal C6 and C7 deficiency is a rare and complex genetic disorder that affects the immune system. Understanding, diagnosing, and using genetic testing for this disease is crucial for individuals and families affected by it. This article will delve into the intricacies of this disorder, the importance of genetic testing, and how it can be helpful for those living with combined subtotal C6 and C7 deficiency.
Understanding Combined Subtotal C6 and C7 Deficiency
Combined subtotal C6 and C7 deficiency is a rare genetic disorder that affects the immune system. The deficiency is characterized by a lack of two essential proteins, C6 and C7, which are crucial components of the complement system. The complement system is a vital part of the immune system, responsible for identifying and eliminating harmful pathogens from the body. The absence of C6 and C7 proteins may lead to an increased susceptibility to certain bacterial infections and autoimmune diseases, such as systemic lupus erythematosus (SLE) and pyogenic infections.
Diagnosing Combined Subtotal C6 and C7 Deficiency
Diagnosing combined subtotal C6 and C7 deficiency can be challenging due to the rarity of the condition and the complexity of the complement system. However, a combination of clinical evaluation, laboratory tests, and genetic testing can help identify the deficiency. Laboratory tests may include measuring the levels of C6 and C7 proteins in the blood, as well as assessing the function of the complement system. Genetic testing can further confirm the diagnosis by identifying the specific mutations in the C6 and C7 genes.
Genetic Testing for Combined Subtotal C6 and C7 Deficiency
Genetic testing is a powerful tool that can help identify the specific mutations responsible for combined subtotal C6 and C7 deficiency. This information can be valuable for both individuals and families affected by the disorder.
Identifying the Specific Mutations
A study by Kuijpers et al. reported genetic mutations in C7 deficiency patients, revealing a single base mutation in exon 10 and a C to A transversion in exon 11. Identifying these specific mutations can help confirm the diagnosis of combined subtotal C6 and C7 deficiency and provide a better understanding of the underlying genetic cause of the disorder.
Understanding Disease Associations
Genetic testing can also help identify other diseases associated with complement deficiencies. A review by Walport et al. provides an overview of complement deficiencies, their chromosome locations, and associated diseases, including systemic lupus erythematosus (SLE) and pyogenic infections. Understanding these associations can help guide clinical management and treatment strategies for individuals with combined subtotal C6 and C7 deficiency.
Family Planning and Genetic Counseling
For families affected by combined subtotal C6 and C7 deficiency, genetic testing can provide valuable information for family planning and genetic counseling. Identifying the specific mutations responsible for the disorder can help determine the risk of passing the condition to future generations. Genetic counseling can provide guidance and support for families navigating the complex emotional and medical decisions associated with combined subtotal C6 and C7 deficiency.
Personalized Treatment Strategies
Genetic testing for combined subtotal C6 and C7 deficiency may also open doors for personalized treatment strategies. By understanding the specific genetic mutations involved in the disorder, researchers and clinicians can potentially develop targeted therapies to address the underlying cause of the deficiency. This could lead to more effective and tailored treatments for individuals living with combined subtotal C6 and C7 deficiency.
In conclusion, understanding, diagnosing, and using genetic testing for combined subtotal C6 and C7 deficiency is essential for individuals and families affected by this rare and complex disorder. Genetic testing can provide valuable information about the specific mutations responsible for the deficiency, inform family planning and genetic counseling, and potentially lead to personalized treatment strategies. As research continues to advance our understanding of this disorder, genetic testing will play an increasingly important role in the management of combined subtotal C6 and C7 deficiency.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)