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Complement Factor I Gene Variant as a Treatable Cause of Recurrent Aseptic Neutrophilic Meningitis: A Case Report

Mary Rolfes1, Adil Harroud1, Kelsey C Zorn1

  • 1From the Weill Institute for Neurosciences (M.R., M.R.W.), Department of Neurology, University of California, San Francisco; Montreal Neurological Institute and Hospital (A.H.), Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; Department of Biochemistry and Biophysics (K.C.Z., A.T.); Department of Laboratory Medicine (C.O., C.Y.C.); Kaiser Permanente Santa Rosa Medical Center (K.K.)Department of Medicine (M.M.), Division of Rheumatology; Department of Medicine (A.B.), Molecular Medicine Consult Service; Department of Medicine (C.Y.C.), Division of Infectious Diseases, University of California, San Francisco; The Peter Doherty Institute for Infection and Immunity (P.S.R.); Department of Neurology (P.S.R.), Royal Melbourne Hospital; and Department of Neurology (P.S.R.), St.Vincent's Hospital, University of Melbourne, Australia.

Neurology(R) Neuroimmunology & Neuroinflammation
|June 20, 2023
PubMed

Insights

A complement factor I (CFI) gene variant, previously unlinked to neurological issues, caused recurrent meningitis in a young man. Treatment with canakinumab targeting interleukin-1 beta led to remission, suggesting a new therapeutic avenue.

Area of Science:

  • Immunology
  • Genetics
  • Neurology

Background:

  • Recurrent central nervous system (CNS) inflammation can be linked to mutations in the complement factor I (CFI) gene.
  • The complement system plays a crucial role in immune response and inflammation regulation.

Observation:

  • A 26-year-old male presented with a history of 18 episodes of recurrent meningitis.
  • Genetic analysis revealed a novel variant in the CFI gene (c.859G>A, p.Gly287Arg).
  • This specific CFI variant had not been previously associated with neurological manifestations.

Findings:

  • The identified CFI variant (c.859G>A, p.Gly287Arg) was implicated as the cause of the patient's recurrent meningitis.
  • Treatment with canakinumab, an interleukin-1 beta inhibitor, resulted in complete remission of symptoms.
  • This suggests a potential role for targeting interleukin-1 beta in managing CFI-associated neurological inflammation.

Implications:

  • This case expands the known spectrum of neurological manifestations associated with CFI gene mutations.
  • It highlights canakinumab as a potential therapeutic option for patients with specific CFI variants and recurrent CNS inflammation.
  • Further research into the role of the complement system and interleukin-1 beta in CNS inflammation is warranted.

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