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Published on: August 15, 2019
Human monogenic disorders that confer predisposition to specific infections
Capucine Picard1, Laurent Abel, Jean-Laurent Casanova
1Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes-INSERM U550, Faculté de Médecine Necker, 156 Rue de Vaugirard, 75015 Paris, France.
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.
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