Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening

Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by hematopoietic stem cell transplantation. The outcome for transplantation varies and is dependent on donor status and the condition of the child at the time of transplantation. Diagnosis at birth may allo...

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Bibliographic Details
Published in:Blood 2011-03, Vol.117 (11), p.3243-3246
Main Authors: Brown, Lucinda, Xu-Bayford, Jinhua, Allwood, Zoe, Slatter, Mary, Cant, Andrew, Davies, E. Graham, Veys, Paul, Gennery, Andrew R., Gaspar, H. Bobby
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cohort Studies
Hematologic and hematopoietic diseases
Hematopoietic Stem Cell Transplantation
Humans
Infant, Newborn
Medical sciences
Neonatal Screening
Severe Combined Immunodeficiency - diagnosis
Siblings
Survival Analysis
Treatment Outcome
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Summary:Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by hematopoietic stem cell transplantation. The outcome for transplantation varies and is dependent on donor status and the condition of the child at the time of transplantation. Diagnosis at birth may allow for better protection of SCID babies from infection and improve transplantation outcome. In this comparative study conducted at the 2 designated SCID transplantation centers in the United Kingdom, we show that SCID babies diagnosed at birth because of a positive family history have a significantly improved outcome compared with the first presenting family member. The overall improved survival of more than 90% is related to a reduced rate of infection and significantly improved transplantation outcome irrespective of donor choice, conditioning regimen used, and underlying genetic diagnosis. Neonatal screening for SCID would significantly improve the outcome in this otherwise potentially devastating condition.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2010-08-300384