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.
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, U550, Paris, France. casanova@necker.fr
Jean-Laurent
JL
Casanova
Laurent
L
Abel
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