Picard Capucine, Abel Laurent, Casanova Jean-Laurent
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.
Novartis Found Symp. 2007;281:65-73; discussion 73-8, 208-9. doi: 10.1002/9780470062128.ch7.
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.
影响抗感染免疫力的人类单基因疾病越来越受到关注。大多数与原发性免疫缺陷相关,原发性免疫缺陷通常使人易患多种传染病。我们在此回顾已知的非典型单基因疾病,这些疾病使原本健康的个体对特定微生物感染具有狭窄的易感性。这些“自然实验”具有重要的免疫学和临床意义。