Severe Meningococcal Meningitis Revealing a Novel Form of Properdin Deficiency in a Previously Healthy 13-Year-old Child-Reference-Cited by-同舟云学术

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

Published:2024-05-10 Issue:8 Volume:43 Page:e282-e284
ISSN:0891-3668
Container-title:Pediatric Infectious Disease Journal
language:en
Short-container-title:

Author:

Bevacqua Martina¹^ORCID,Bastard Paul²³⁴⁵,Pinhas Yael¹,Aubart Mélodie³⁶,Roux Charles-Joris⁷,Taha Muhamed-Kheir⁸,Cohen Jérémie F.¹^ORCID

Affiliation:

1. From the Department of General Pediatrics and Pediatric Infectious Diseases

2. Pediatric Hematology-Immunology and Rheumatology Unit, Necker-Enfants Malades Hospital, APHP, Université Paris Cité

3. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker-Enfants Malades Hospital

4. Imagine Institute, Paris Cité University, Paris, France

5. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York

6. Pediatric Neurology Department

7. Department of Pediatric Radiology, Necker-Enfants Malades Hospital, APHP

8. National Reference Center for Meningococci and Haemophilus influenzae, Invasive Bacterial Infections Unit, Institut Pasteur, Université Paris Cité, Paris, France.

Abstract

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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