title: Immunological and genetic bases of new primary immunodeficiencies.
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.
authors.affiliation: Department of Infectious and Pediatric Immunology, University of Debrecen Medical and Health Science Center, H-4,012 Debrecen, Hungary. lmarodi@dote.hu
authors.forename: László
authors.initials: L
authors.lastname: Maródi
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000818:Animals; D020022:Genetic Predisposition to Disease; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics* / Q000276:immunology*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology*