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Science. 2007 Aug 3;317(5838):617-9.

Primary immunodeficiencies: a field in its infancy.

Author information

1
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale, U550, Paris, France. casanova@necker.fr

Abstract

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.

PMID:
17673650
DOI:
10.1126/science.1142963
[Indexed for MEDLINE]

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