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Meningococcal Serogroup Y Meningitis Reveals Inborn Factor B Deficiency.

Camille Bougeard1, Eléonore Eskander2, Paula Vieira Martins1

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|February 9, 2026
PubMed
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Complement factor B (FB) deficiency is a rare defect in the alternative pathway (AP) of complement. This case highlights infectious risks and diagnostic approaches for this condition.

Keywords:
alternative pathwaycomplement factor Bfactor B deficiencymeningococcal diseasepediatrics

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Area of Science:

  • Immunology
  • Genetics
  • Complement System Biology

Background:

  • Complement factor B (FB) deficiency is an extremely rare defect of the alternative pathway (AP) of complement, predisposing individuals to invasive infections.
  • Only three families with this condition have been reported previously.
  • Patients with FB deficiency are at risk for Neisseria meningitidis infections.

Purpose of the Study:

  • To investigate the genetic and functional basis of complement deficiency in a patient with Neisseria meningitidis meningitis.
  • To characterize the specific defect in the complement alternative pathway.
  • To identify novel genetic variants associated with complement factor B deficiency.

Main Methods:

  • Complement function was assessed using total complement activity (TCA) and AP50 hemolytic assays.
  • Factor B (FB) levels were quantified, and functional reconstitution studies were performed.
  • Genetic analysis of the CFB gene was conducted using next-generation sequencing.

Main Results:

  • The patient presented with Neisseria meningitidis meningitis and bacteremia.
  • Functional assays revealed undetectable AP50 activity and reduced plasma FB concentration, confirming FB deficiency.
  • Genetic analysis identified compound heterozygosity for two likely pathogenic CFB variants: a previously described missense variant and a novel missense variant in the serine protease domain.

Conclusions:

  • This report describes the third genetically confirmed case of complete FB deficiency and the first involving a serine protease domain variant.
  • Combined quantitative and functional complement assays are crucial for diagnosing FB deficiency.
  • The findings highlight the infectious risks associated with FB deficiency, particularly relevant for patients undergoing treatment with emerging FB inhibitors.