Unlocking the Mystery of Properdin Deficiency, Type II: Genetic Testing and Beyond

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Properdin deficiency, type II, is a rare genetic disorder that affects the immune system. Properdin is a protein that plays a crucial role in the body’s defense against infections. People with properdin deficiency type II have an increased susceptibility to bacterial infections, particularly those caused by Neisseria meningitidis, a leading cause of bacterial meningitis. In this article, we will explore the role of genetic testing in understanding, diagnosing, and managing this rare condition.

Understanding Properdin Deficiency, Type II

Properdin deficiency type II is caused by mutations in the CFP gene, which provides instructions for making the properdin protein. The mutations lead to an altered properdin protein that is either nonfunctional or present in insufficient amounts. As a result, the immune system’s ability to fight off infections is compromised, leading to the increased risk of bacterial infections.

A study on the expression of properdin in complete and incomplete deficiency investigated the in vitro synthesis of properdin by monocytes in two cases with properdin deficiency type II due to distinct mutations. The findings of this study contribute to our understanding of the molecular mechanisms underlying this rare condition.

Diagnosing Properdin Deficiency, Type II

Diagnosing properdin deficiency type II can be challenging due to the rarity of the condition and the nonspecific symptoms associated with it. However, genetic testing can play a critical role in confirming the diagnosis. By analyzing the DNA of individuals suspected to have the condition, healthcare providers can identify the specific mutations in the CFP gene responsible for the deficiency.

Genetic testing can also be helpful in identifying other rare genetic disorders with overlapping symptoms. For example, a novel mutation in leukocyte adhesion deficiency type II/CDGIIc was discovered, which is another rare genetic disorder that can present with similar symptoms to properdin deficiency type II.

Uses of Genetic Testing for Properdin Deficiency, Type II

Genetic testing can be beneficial in several ways for individuals with properdin deficiency type II, including:

• Confirming the diagnosis: As mentioned earlier, genetic testing can help confirm the diagnosis of properdin deficiency type II by identifying the specific mutations in the CFP gene.
• Carrier testing: Genetic testing can also be used to determine if an individual is a carrier of the mutated CFP gene, which can be helpful for family planning and assessing the risk of passing the condition to future generations.
• Prenatal and newborn screening: In some cases, genetic testing can be used to screen for properdin deficiency type II in unborn babies or newborns, allowing for early intervention and management of the condition.

Managing Properdin Deficiency, Type II

Currently, there is no cure for properdin deficiency type II, and management focuses on preventing and treating infections. Patients with this condition may require lifelong follow-up and monitoring, as well as prophylactic antibiotics to reduce the risk of infection. In some cases, patients may also need additional treatments or interventions for complications related to the condition.

For example, a study on autosomal dominant growth hormone deficiency (type II GHD) discusses the clinical implications, management, and lifelong follow-up of patients with this rare genetic disorder, which can also be associated with properdin deficiency type II.

Additionally, a systematic review of vitamin D dependent rickets type II shares experiences and insights into managing this rare genetic disorder affecting bone development, which can also be seen in some cases of properdin deficiency type II.

Conclusion

Properdin deficiency, type II, is a rare and complex genetic disorder that affects the immune system. Genetic testing plays a crucial role in understanding, diagnosing, and managing this condition. By identifying the specific mutations in the CFP gene, healthcare providers can confirm the diagnosis and provide appropriate care and management for affected individuals. With ongoing research and advancements in genetic testing, our understanding of properdin deficiency type II and other rare genetic disorders continues to grow, paving the way for improved diagnosis, treatment, and care for those affected.

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)