Primary Immunodeficiencies: A Field in Its Infancy

@article{Casanova2007PrimaryIA,
  title={Primary Immunodeficiencies: A Field in Its Infancy},
  author={Jean Laurent Casanova and Laurent Abel},
  journal={Science},
  year={2007},
  volume={317},
  pages={617 - 619}
}
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… 
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TLDR
Timely diagnosis and appropriate treatment remain the keys to the successful management of patients with PIDs.
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The authors review how the exploration of children who have clinical infectious diseases caused by mycobacteria, pneumococcus, and herpes simplex virus recently led to the description of three new groups of primary immunodeficiencies, justifying the continuation of the genetic exploration of novel infectious phenotypes and novel patients who have infections.
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