Immunological and genetic bases of new primary immunodeficiencies

László Maródi, Luigi D. Notarangelo

Research output: Contribution to journalReview article

77 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)851-861
Number of pages11
JournalNature Reviews Immunology
Issue number11
Publication statusPublished - Nov 1 2007

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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