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Human primary immunodeficiency diseases: a perspective

Nature Immunology volume 5, pages 23–30 (2004)Cite this article

Abstract

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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Figure 1: Primary B cell immunodeficiencies.
Figure 2: Immunoglobulin CSR and SHM: insight from the study of HIGM syndromes.
Figure 3: Putative mechanisms of genetically determined mendelian autoimmune conditions.

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Acknowledgements

I thank G. de Saint Basile, A. Durandy, F. Le Deist, P. Revy and F. Rieux-Laucat (Institut National de la Santé et de la Recherche Médicale U429), whose contributions are discussed herein. I also thank M. Tiouri for her secretarial assistance.

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Fischer, A. Human primary immunodeficiency diseases: a perspective. Nat Immunol 5, 23–30 (2004). https://doi.org/10.1038/ni1023

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