The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)

Severe combined immunodeficiency (SCID) is the most severe form of inherited primary immunodeficiency and is a paediatric emergency. Delay in recognising and detecting SCID can have fatal consequences and also reduces the chances of a successful haematopoietic stem cell transplant (HSCT). Screening...

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Bibliographic Details
Published in:Journal of clinical immunology 2014-05, Vol.34 (4), p.393-397
Main Authors: Gaspar, H. B., Hammarström, L., Mahlaoui, N., Borte, M., Borte, S.
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Enzyme Replacement Therapy
Europe - epidemiology
Female
Genetic Therapy
Hematopoietic Stem Cell Transplantation
Humans
Immunology
Infant, Newborn
Infectious Diseases
Internal Medicine
Key Review Article
Lymphocyte Count
Male
Medical Microbiology
Neonatal Screening - methods
Neonatal Screening - utilization
Severe Combined Immunodeficiency - diagnosis
Severe Combined Immunodeficiency - epidemiology
Severe Combined Immunodeficiency - immunology
Severe Combined Immunodeficiency - therapy
T-Lymphocytes - immunology
T-Lymphocytes - pathology
United States - epidemiology
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Summary:Severe combined immunodeficiency (SCID) is the most severe form of inherited primary immunodeficiency and is a paediatric emergency. Delay in recognising and detecting SCID can have fatal consequences and also reduces the chances of a successful haematopoietic stem cell transplant (HSCT). Screening for SCID at birth would prevent children from dying before HSCT can be attempted and would increase the success of HSCT. There is strong evidence to show that SCID fulfills the internationally-established criteria for a condition to be screened for at birth. There is also a test (the T-cell receptor excision circle (TREC) assay) that is now being successfully used in an increasing number of US states to screen for SCID in routine newborn Guthrie samples. Concerted lobbying efforts have highlighted the need for newborn screening (NBS) for SCID, and its implementation is being discussed in Europe both at EU and individual country level, but as yet there is no global mandate to screen for this rare and frequently lethal condition. This paper summarizes the current evidence for, and the success of SCID NBS, together with a review of the practical aspects of SCID testing and the arguments in favour of adding SCID to the conditions screened for at birth.
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-014-0029-0