Case Report: Integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal
J Barbieur1,2,3, E D'haenens4,5, T Jarayseh1,2
1Primary Immune Deficiency Research Lab (PIRL), Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.
Frontiers in Immunology
|July 1, 2026
Summary
Complement factor B (FB) deficiency is a rare inborn error of immunity. This study details a fourth case, identifying novel genetic variants in the CFB gene and emphasizing the importance of advanced genetic and functional analyses for diagnosis.
Area of Science:
- Immunology and Genetics
- Innate Immunity
- Complement System Disorders
Background:
- Inborn defects in the alternative pathway (AP) of the complement system are crucial for host defense against encapsulated bacterial infections.
- Complement factor B (FB) deficiency, caused by biallelic pathogenic variants in the CFB gene, is an extremely rare inborn error of immunity (IEI), with only three cases previously reported.
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