Nature Immunology5, 23 - 30 (2004)
Published online: 29 December 2003; | doi:10.1038/ni1023
Human primary immunodeficiency diseases: a perspective
Alain Fischer
Alain Fischer is at Institut National de la Santé et de la Recherche Médicale U429, Hôpital Necker-Enfants Malades, 149 rue de Sèvres
75015
Paris, France. fischer@necker.fr
Primary immunodeficiency diseases consist of a group of more than 100 inherited conditions, mostly monogenic, predisposing individuals to different sets of infections, allergy, autoimmunity and cancer. Primary immunodeficiencies therefore represent exquisite models of various immunopathological settings. The identification of the associated genes, 100 so far, has generated a plethora of information about the immune system and spurred the analysis of many aspects of the development, function and regulation of both innate and adaptive immunity. These findings can potentially contribute to improved care of affected individuals by providing new diagnostic and/or therapeutic tools.
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