Login / Signup

Severe Meningococcal Meningitis Revealing a Novel Form of Properdin Deficiency in a Previously Healthy 13-Year-old Child.

Martina BevacquaPaul BastardYael PinhasMélodie AubartCharles-Joris RouxMuhamed-Kheir TahaJérémie F Cohen
Published in: The Pediatric infectious disease journal (2024)
A 13-year-old boy was admitted with severe meningococcal meningitis. Immunologic workup revealed a properdin deficiency, and genetic sequencing of CFP identified a novel, private and predicted pathogenic variant in exon 8. The patient received broad immunizations and penicillin prophylaxis. Children with invasive meningococcal disease should be tested for complement deficiency.
Keyphrases
  • single cell
  • replacement therapy
  • early onset
  • cerebrospinal fluid
  • healthcare
  • young adults
  • case report
  • genome wide
  • copy number