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

ABSTRACT: 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 benefit from earlier detection by pre-symptomatic screening, whether adequate treatment facilities are available, and how screening could improve SCID treatment outcomes. A survey of parents of children with SCID evaluated family history, pre- and post-diagnosis events, outcomes, and impact of SCID on f

SUBMITTER: Chan A 

PROVIDER: S-EPMC3022101 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature