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Meningococcal disease in congenital absence of the fifth component of complement
1Department of Infectious Diseases M, Rigshospitalet, Copenhagen, Denmark.
Scandinavian Journal of Infectious Diseases
|January 1, 1987
Abstract:
We describe a family in which 2 brothers had meningococcal infection, 1 of them twice. Their parents were first degree cousins. The brothers showed a complete, isolated deficiency of C5, both antigenic and functional. The parents had half-normal values, and the data are compatible with an inherited C5 deficiency where the defect is transmitted as an autosomal codominant trait.
Insights
Two brothers with recurrent meningococcal infections had a complete C5 deficiency. This inherited C5 deficiency was transmitted as an autosomal codominant trait, impacting immune response.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Recurrent bacterial infections can indicate underlying immune system deficiencies.
- Complement component 5 (C5) is crucial for the membrane attack complex formation and pathogen lysis.
Observation:
- A family presented with two brothers experiencing meningococcal infections, one affected twice.
- The parents of the affected brothers were first-degree cousins, suggesting a potential genetic link.
Findings:
- Both brothers exhibited a complete, isolated deficiency in both antigenic and functional C5.
- The parents displayed C5 levels at half the normal range, consistent with a heterozygous carrier state.
Implications:
- The study suggests an inherited C5 deficiency as the cause of recurrent meningococcal disease in this family.
- The pattern of inheritance is compatible with an autosomal codominant trait for C5 deficiency.
- Understanding C5 deficiency aids in diagnosing and managing individuals with recurrent infections and compromised complement pathways.