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Related Experiment Videos

A family with complement factor D deficiency.

D H Biesma1, A J Hannema, H van Velzen-Blad

  • 1Department of Internal Medicine, St. Antonius Hospital, Nieuwegein, The Netherlands. d.biesma@antonius.net

The Journal of Clinical Investigation
|July 18, 2001
PubMed
Summary
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Complement factor D deficiency, identified via a gene mutation, impairs the alternative complement pathway. This impacts opsonization, increasing susceptibility to infections like Neisseria meningitidis.

Area of Science:

  • Immunology
  • Genetics

Background:

  • The alternative complement pathway is crucial for innate immunity.
  • Factor D is a key enzyme in the alternative complement pathway.

Observation:

  • A family presented with complement factor D deficiency, linked to a Neisseria meningitidis infection in one member.
  • Deficient individuals exhibited impaired alternative pathway activity and reduced opsonization of bacteria.
  • The deficiency was associated with a specific point mutation in the Factor D gene, leading to a premature stop codon.

Findings:

  • A novel autosomal recessive mutation in the Factor D gene (Ser42 to stop codon) was identified as the cause of deficiency.
  • The mutation was present in homozygous form in deficient individuals and heterozygous in others with reduced Factor D levels.

Related Experiment Videos

  • Restoration of factor D activity normalized alternative pathway function and bacterial opsonization.

    • Implications:

    • This study identifies the first documented Factor D gene mutation.
    • Understanding factor D deficiency provides insights into complement-mediated immunity.
    • The findings highlight the importance of the alternative pathway in defense against encapsulated bacteria.