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 CohenPublished 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.