A case of familial meningococcal disease due to deficiency in mannose-binding lectin (MBL)

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Inducing Meningococcal Meningitis Serogroup C in Mice via Intracisternal Delivery
10:03

Inducing Meningococcal Meningitis Serogroup C in Mice via Intracisternal Delivery

Published on: November 5, 2019

Saskia Kuipers1, Piet C Aerts, Onno J J Cluysenaer

  • 1Eijkman-Winkler Centre for Microbiology, Infectious Diseases and Inflammation, University Medical Centre, Utrecht, The Netherlands.

Advances in Experimental Medicine and Biology
|August 15, 2003
PubMed

Insights

Familial meningococcal meningitis cases were linked to a specific MBL gene variant (B, D). This genetic finding explains the recurrent disease in the family and low mannose-binding lectin (MBL) levels.

Area of Science:

  • Immunogenetics
  • Infectious Diseases
  • Molecular Biology

Background:

  • Meningococcal meningitis is a serious bacterial infection.
  • Mannose-binding lectin (MBL) plays a crucial role in the innate immune system.
  • Genetic variations in MBL can affect its function and susceptibility to infections.

Observation:

  • A family presented with recurrent meningococcal meningitis across three generations.
  • Affected individuals were diagnosed at a similar age (17-19 years).
  • All affected family members carried the MBL gene variant B, D, not the common A, A trait.

Findings:

  • The B, D MBL gene variant was associated with significantly lower serum MBL levels (<0.15 microgs/ml) compared to controls (mean 1.67 microgs/ml).
  • Serum MBL levels in the family ranged from very low to 7.0 microgs/ml.
  • Elevated MBL levels in some elderly individuals were attributed to acute-phase reactant behavior.

Implications:

  • This study highlights a potential genetic predisposition to meningococcal disease due to specific MBL genotypes.
  • Understanding MBL gene variants may aid in identifying individuals at higher risk for recurrent infections.
  • Further research into MBL's role in infectious disease susceptibility is warranted.

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