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Published on: February 23, 2014
Invasive pneumococcal disease in children can reveal a primary immunodeficiency
Jean Gaschignard1, Corinne Levy2, Maya Chrabieh3
1Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale UMR1163 University Paris Descartes, Sorbonne Paris Cité, Imagine Institute, Paris, France Groupe de Pathologie Infectieuse Pédiatrique, France.
Primary immunodeficiencies (PIDs) are linked to invasive pneumococcal disease (IPD) in children. Immunological investigations are recommended, especially for those over two years old, to identify PIDs in up to 26% of cases.
Area of Science:
- Pediatric Infectious Diseases
- Clinical Immunology
- Genetics
Background:
- Invasive pneumococcal disease (IPD) has a significant mortality rate in children.
- Primary immunodeficiencies (PIDs) are suspected risk factors for IPD, but a systematic evaluation in pediatric IPD cases is lacking.
Purpose of the Study:
- To systematically investigate the prevalence of PIDs in hospitalized pediatric patients diagnosed with IPD.
- To identify specific PIDs associated with increased susceptibility to IPD in children.
Main Methods:
- Prospective study of pediatric IPD cases hospitalized between 2005-2011 across 28 French pediatric wards.
- Immunological assessment included blood counts, immunoglobulin and complement levels, and cytokine evaluation.
- IPD diagnosis confirmed by positive culture, PCR, or antigen detection from sterile sites.
Main Results:
- 163 children with IPD were included; 10% were diagnosed with a PID.
- PIDs were more prevalent in children over 2 years old (26%) compared to younger children (3%).
- Identified PIDs included MyD88 deficiency, complement deficiencies (C2/C3), congenital asplenia, and Bruton disease.
Conclusions:
- Immunological investigations are crucial for children diagnosed with IPD.
- The likelihood of identifying a PID increases significantly in children over 2 years of age presenting with IPD.
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