Primary immunodeficiencies: a field in its infancy

Science. 2007 Aug 3;317(5838):617-9. doi: 10.1126/science.1142963.


A paradigm shift is occurring in the field of primary immunodeficiencies, with revision of the definition of these conditions and a considerable expansion of their limits. Inborn errors of immunity were initially thought to be confined to a few rare, familial, monogenic, recessive traits impairing the development or function of one or several leukocyte subsets and resulting in multiple, recurrent, opportunistic, and fatal infections in infancy. A growing number of exceptions to each of these conventional qualifications have gradually accumulated. It now appears that most individuals suffer from at least one of a multitude of primary immunodeficiencies, the dissection of which is helping to improve human medicine while describing immunity in natura.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Child
  • Disease Susceptibility
  • Genetic Predisposition to Disease
  • Humans
  • Immune System / physiopathology*
  • Immunity, Active
  • Immunity, Innate
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology*
  • Infant
  • Infections / etiology
  • Infections / immunology*
  • Mutation
  • Phenotype