Primary immunodeficiencies associated with pneumococcal... : Current Opinion in Allergy and Clinical Immunology (original) (raw)
Primary immune deficiency disease
Picard, Capucinea,b; Puel, Anneb; Bustamante, Jacintab; Ku, Cheng-Lungb; Casanova, Jean-Laurenta,b
aPediatric Immunology-Hematology Unit, Necker-Enfants Malades Hospital, and bLaboratory of Human Genetic of Infectious Diseases, University of Paris René Descartes, Paris, France, EU
Correspondence to Capucine Picard MD, Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes, INSERM U550, Faculté de Médecine Necker, 156 Rue de Vaugirard, 75015 Paris, France Tel: +33 1 40 61 53 83; fax: +33 1 40 61 56 88; e-mail: [email protected]
Abbreviations
CGD: chronic granulomatous disease
IRAK-4: interleukin-1 receptor associated kinase-4
LAD: leukocyte adhesion deficiency
MASP2: MBL-associated serine proteases 2
MBL: mannose-binding lectin
NEMO: nuclear factor κB essential modulator
NF-κB: nuclear factor κB
PID: primary immunodeficiency disease
XLA: X-linked agammaglobulinemia
Abstract
Purpose of review
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.
Recent findings
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-κB 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.
Summary
Antibody- and complement-mediated opsonization, splenic macrophages and interleukin-1 receptor associated kinase-4- and nuclear factor κB-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.
© 2003 Lippincott Williams & Wilkins, Inc.