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Primary Immunodeficiencies: A Field in Its Infancy
Jean-Laurent Casanova1,2,3* and
Laurent Abel1,2
A paradigm shift is occurring in the field of primary immunodeficiencies,with revision of the definition of these conditions and a considerableexpansion of their limits. Inborn errors of immunity were initiallythought to be confined to a few rare, familial, monogenic, recessivetraits impairing the development or function of one or severalleukocyte subsets and resulting in multiple, recurrent, opportunistic,and fatal infections in infancy. A growing number of exceptionsto each of these conventional qualifications have graduallyaccumulated. It now appears that most individuals suffer fromat least one of a multitude of primary immunodeficiencies, thedissection of which is helping to improve human medicine whiledescribing immunity in natura.
1 Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, U550, Paris, France. 2 University Paris René Descartes, Necker Medical School, Paris, France. 3 Pediatric Hematology and Immunology Unit, Necker Children's Hospital, Paris, France.
* To whom correspondence should be addressed. E-mail: casanova{at}necker.fr
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