Review
Nature Reviews Immunology 7, 851-861 (November 2007) | doi:10.1038/nri2195
Immunological and genetic bases of new primary immunodeficiencies
László Maródi1 & Luigi D. Notarangelo2 About the authors
Abstract
Since 1952, when congenital agammaglobulinaemia was described by Bruton, the characterization of genetically defined immunodeficiencies in humans has been crucial for a better understanding of the biology of the innate and adaptive immune responses. This Review focuses on the characterization of new primary immunodeficiencies and disease-related genes. A series of primary defects of innate immunity have recently been discovered and are discussed here. Moreover, new defects in pre-B-cell and B-cell differentiation and antibody maturation are summarized and recently discovered monogenic immunodeficiencies that disturb the homeostasis of both the innate and the adaptive immune systems are discussed.
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Author affiliations
- Department of Infectious and Pediatric Immunology, University of Debrecen Medical and Health Science Center, H-4,012 Debrecen, Hungary.
- Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Correspondence to: László Maródi1 Email: lmarodi@dote.hu
Correspondence to: Luigi D. Notarangelo2 Email: luigi.notarangelo@childrens.harvard.edu
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