Document Detail

Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.
MedLine Citation:
PMID:  21035402     Owner:  NLM     Status:  MEDLINE    
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 families. Affected infants diagnosed with SCID as neonates had better survival, demonstrating the potential benefit of universal newborn screening.
Alice Chan; Christopher Scalchunes; Marcia Boyle; Jennifer M Puck
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.     Date:  2010-10-28
Journal Detail:
Title:  Clinical immunology (Orlando, Fla.)     Volume:  138     ISSN:  1521-7035     ISO Abbreviation:  Clin. Immunol.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-17     Completed Date:  2011-03-08     Revised Date:  2013-07-03    
Medline Journal Info:
Nlm Unique ID:  100883537     Medline TA:  Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Inc. All rights reserved.
Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA.
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MeSH Terms
Delayed Diagnosis* / mortality,  prevention & control,  statistics & numerical data
Early Diagnosis
Health Surveys*
Infant, Newborn
Neonatal Screening / utilization
Severe Combined Immunodeficiency / diagnosis*,  genetics,  mortality*,  therapy
Survival Analysis
Survival Rate
Time Factors
Treatment Outcome
United States / epidemiology
Grant Support
R03 HD060311/HD/NICHD NIH HHS; R03 HD060311-02/HD/NICHD NIH HHS; R03 HD60311/HD/NICHD NIH HHS; U32 MC00148-08-00//PHS HHS

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