Case Report: Integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal meningoencephalitis - Takeaways - MDSpire

Case Report: Integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal meningoencephalitis

  • By

  • J. Barbieur

  • E. D’haenens

  • T. Jarayseh

  • L. Hoste

  • J. Smet

  • S. Lambrecht

  • E. Schiettecatte

  • P. Schelstraete

  • M. De Bruyne

  • F. Haerynck

  • S. J. Tavernier

  • June 16, 2026

  • 0 min

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  • 1

    A fourth case of autosomal recessive complement factor B deficiency was identified in an 8-month-old boy with severe pneumococcal meningoencephalitis.

  • 2

    Genetic analysis revealed two non-canonical splice-site variants in the CFB gene, causing aberrant splicing and reduced complement factor B levels.

  • 3

    The patient exhibited absent alternative pathway activity while maintaining normal classical and lectin pathway function.

  • 4

    Despite timely treatment, the patient experienced long-term neurological sequelae, including hearing loss and epilepsy.

  • 5

    This case highlights the importance of integrating genomic and immunological analyses for diagnosing rare inborn errors of immunity.

Original Source(s)

Case Report: Integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal meningoencephalitis

  • by J. Barbieur, E. D’haenens, T. Jarayseh, L. Hoste, J. Smet, S. Lambrecht, E. Schiettecatte, P. Schelstraete, M. De Bruyne, F. Haerynck, S. J. Tavernier

  • June 16, 2026

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