title: Human monogenic disorders that confer predisposition to specific infections.
abstract: Human monogenic disorders affecting immunity to infection are increasingly recognized. Most are associated with primary immunodeficiencies, which typically confer predisposition to multiple infectious diseases. We review here the known, atypical monogenic disorders that confer a narrow vulnerability to infection with specific microorganisms in otherwise healthy individuals. These 'experiments of nature' have important immunological and clinical implications.
authors.affiliation: 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.
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D030342:Genetic Diseases, Inborn / Q000276:immunology*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D004854:Herpesvirus 4, Human; D006801:Humans; D007239:Infections / Q000235:genetics* / Q000276:immunology*; D009159:Mycobacteriaceae; D009343:Neisseria; D027383:Papillomaviridae; D013296:Streptococcus pneumoniae