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Science 317 (5838): 617-619

Copyright © 2007 by the American Association for the Advancement of Science

Primary Immunodeficiencies: A Field in Its Infancy

Jean-Laurent Casanova1,2,3*, and Laurent Abel1,2

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.

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}

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Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor {beta}1 Deficiency.
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