Properdin deficiency

Properdin deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to Neisseria infections (including meningococcal meningitis and gonococcal disease), and, potentially, infections with other encapsulated bacteria.

Clinical Description

Individuals with properdin deficiency may present with recurrent Neisseria infections, including meningococcal meningitis and gonococcal disease. The severity and frequency of infections can vary widely among affected individuals. Some individuals may have only one episode of infection, while others may have recurrent infections.

Etiology

Properdin deficiency is caused by mutations in the CFP gene, which encodes the protein properdin. Properdin is a component of the complement system, a part of the immune system that helps to clear pathogens from the body. Mutations in the CFP gene can lead to a lack of functional properdin, impairing the body's ability to fight off certain types of bacterial infections.

Diagnosis

The diagnosis of properdin deficiency is confirmed by laboratory testing showing low or absent levels of properdin in the blood. Genetic testing can also be used to identify mutations in the CFP gene.

Management and Treatment

The management of properdin deficiency involves the prevention and treatment of infections. Antibiotic prophylaxis may be used to prevent Neisseria infections. Vaccination against meningococcal disease is also recommended.

Prognosis

The prognosis for individuals with properdin deficiency varies and depends on the severity and frequency of infections. With appropriate management, most individuals with properdin deficiency can lead normal lives.

Epidemiology

Properdin deficiency is a rare disorder. The exact prevalence is unknown, but it is estimated to affect less than 1 in 1,000,000 individuals worldwide.

Research Directions

Research is ongoing to better understand the role of properdin in the immune system and to develop new treatments for properdin deficiency.

See Also

• Complement system
• Neisseria
• Meningococcal disease
• Gonococcal disease
• CFP gene

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