title: Primary immunodeficiencies associated with pneumococcal disease.
abstract: OBJECTIVE
  Streptococcus pneumoniae may cause disease in patients with a variety of primary immunodeficiencies. However, no previous review has dealt with the issue of which primary immunodeficiencies predispose affected individuals to pneumococcal disease. We thus reviewed the medical literature on cases of S. pneumoniae infection in patients with primary immunodeficiency diseases, with a particular emphasis on invasive pneumococcal disease.
  
  
  RESULTS
  Primary immunodeficiency diseases comprise over 100 conditions, each associated with a variety of infections. Patients at high risk for pneumococcal disease include most if not all B-cell defects (whether due to an intrinsic B-cell anomaly or an impaired T-cell help), deficiencies of early components of the classical pathway of complement and C3 deficiency, congenital asplenia, anhidrotic ectodermal dysplasia with immunodeficiency (caused by impaired NF-kappaB activation), and interleukin-1 receptor associated kinase-4 deficiency. Patients with other complement deficiencies (alternative and third pathway) and hyperimmunoglobulin E syndrome show a lower risk, whereas patients with other known primary immunodeficiencies, such as phagocytic disorders, do not appear to be particularly vulnerable to S. pneumoniae.
  
  
  CONCLUSIONS
  Antibody- and complement-mediated opsonization, splenic macrophages and interleukin-1 receptor associated kinase-4- and nuclear factor kappaB-mediated immune responses are crucial for protective immunity to S. pneumoniae. This information is useful, not only in increasing our understanding of human immunity to S. pneumoniae, but also in the diagnostic investigation of patients with pneumococcal disease.
authors: Pediatric Immunology-Hematology Unit, Necker-Enfants Malades Hospital, University of Paris René Descartes, Paris, France, EU. picardc@necker.fr
authors: Capucine
authors: C
authors: Picard
authors: Anne
authors: A
authors: Puel
authors: Jacinta
authors: J
authors: Bustamante
authors: Cheng-Lung
authors: CL
authors: Ku
authors: Jean-Laurent
authors: JL
authors: Casanova
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D003165:Complement System Proteins / Q000276:immunology / Q000378:metabolism; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000276:immunology; D010586:Phagocytes / Q000276:immunology / Q000378:metabolism; D011008:Pneumococcal Infections / Q000150:complications* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism
chemical_list: D007136:Immunoglobulins; D003165:Complement System Proteins