Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.

@article{Chan2011EarlyVD,
  title={Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.},
  author={Alice M Y Chan and Christopher Scalchunes and Marcia Boyle and Jennifer M Puck},
  journal={Clinical immunology},
  year={2011},
  volume={138 1},
  pages={3-8}
}
Infants affected with severe combined immunodeficiency (SCID) are susceptible to severe and recurrent infections and do not survive unless provided with immune reconstituting treatments. In the absence of population-based newborn screening, infants with SCID who do not have an affected older relative are ascertained only after they have developed infections. However, only limited data are available from the perspective of patients and families to indicate what proportion of SCID cases might… CONTINUE READING

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