Invasive pneumococcal disease in children can reveal a primary immunodeficiency
Jean Gaschignard, Corinne Levy, Maya Chrabieh, Bertrand Boisson, Cécile Bost-Bru, Stéphane Dauger, François Dubos, Philippe Durand, Joël Gaudelus, Dominique Gendrel, Christèle Gras Le Guen, Emmanuel Grimprel, Gaël Guyon, Catherine Jeudy, Eric Jeziorski, Francis Leclerc, Pierre-Louis Léger, Fabrice Lesage, Mathie Lorrot, Isabelle Pellier, Didier Pinquier, Loïc de Pontual, Philippe Sachs, Caroline Thomas, Pierre Tissières, Frédéric V Valla, Philippe Desprez, Véronique Frémeaux-Bacchi, Emmanuelle Varon, Xavier Bossuyt, Robert Cohen, Laurent Abel, Jean-Laurent Casanova, Anne Puel, Capucine Picard, Jean Gaschignard, Corinne Levy, Maya Chrabieh, Bertrand Boisson, Cécile Bost-Bru, Stéphane Dauger, François Dubos, Philippe Durand, Joël Gaudelus, Dominique Gendrel, Christèle Gras Le Guen, Emmanuel Grimprel, Gaël Guyon, Catherine Jeudy, Eric Jeziorski, Francis Leclerc, Pierre-Louis Léger, Fabrice Lesage, Mathie Lorrot, Isabelle Pellier, Didier Pinquier, Loïc de Pontual, Philippe Sachs, Caroline Thomas, Pierre Tissières, Frédéric V Valla, Philippe Desprez, Véronique Frémeaux-Bacchi, Emmanuelle Varon, Xavier Bossuyt, Robert Cohen, Laurent Abel, Jean-Laurent Casanova, Anne Puel, Capucine Picard
Abstract
Background: About 10% of pediatric patients with invasive pneumococcal disease (IPD) die from the disease. Some primary immunodeficiencies (PIDs) are known to confer predisposition to IPD. However, a systematic search for these PIDs has never been carried out in children presenting with IPD.
Methods: We prospectively identified pediatric cases of IPD requiring hospitalization between 2005 and 2011 in 28 pediatric wards throughout France. IPD was defined as a positive pneumococcal culture, polymerase chain reaction result, and/or soluble antigen detection at a normally sterile site. The immunological assessment included abdominal ultrasound, whole-blood counts and smears, determinations of plasma immunoglobulin and complement levels, and the evaluation of proinflammatory cytokines.
Results: We included 163 children with IPD (male-to-female ratio, 1.3; median age, 13 months). Seventeen children had recurrent IPD. Meningitis was the most frequent type of infection (87%); other infections included pleuropneumonitis, isolated bloodstream infection, osteomyelitis, endocarditis, and mastoiditis. One patient with recurrent meningitis had a congenital cerebrospinal fluid fistula. The results of immunological explorations were abnormal in 26 children (16%), and a PID was identified in 17 patients (10%), including 1 case of MyD88 deficiency, 3 of complement fraction C2 or C3 deficiencies, 1 of isolated congenital asplenia, and 2 of Bruton disease (X-linked agammaglobulinemia). The proportion of PIDs was much higher in children aged >2 years than in younger children (26% vs 3%; P < .001).
Conclusions: Children with IPD should undergo immunological investigations, particularly those aged >2 years, as PIDs may be discovered in up to 26% of cases.
Keywords: Streptococcus pneumonia; complement deficiency; innate deficiency; primary antibody deficiency; primary immunodeficiency.
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Source: PubMed