Primary immunodeficiencies: a field in its infancy.
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.
Casanova
Jean-Laurent
JL
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, U550, Paris, France. casanova@necker.fr
Abel
Laurent
L
D000328:Adult; D000818:Animals; D002648:Child; D004198:Disease Susceptibility; D020022:Genetic Predisposition to Disease; D006801:Humans; D007107:Immune System / Q000503:physiopathology*; D007110:Immunity, Active; D007113:Immunity, Innate; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology*; D007223:Infant; D007239:Infections / Q000209:etiology / Q000276:immunology*; D009154:Mutation; D010641:Phenotype