Flow cytometric assessment of cord blood as an alternative strategy for population-based screening of severe combined immunodeficiency
Child Health Research Unit, Barwon Health, Department of Medicine, Deakin University, Melbourne, AustraliaThe Journal of allergy and clinical immunology (Impact Factor: 11.48). 01/2013; 131(4). DOI: 10.1016/j.jaci.2012.09.039
Article: Reply.The Journal of allergy and clinical immunology 01/2013; DOI:10.1016/j.jaci.2012.09.040 · 11.48 Impact Factor
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ABSTRACT: The modern environment is associated with an increasing burden of non-communicable diseases (NCDs). Mounting evidence implicates environmental exposures, experienced early in life (including in utero), in the aetiology of many NCDs, though the cellular/molecular mechanism(s) underlying this elevated risk across the life course remain unclear. Epigenetic variation has emerged as a candidate mediator of such effects. The Barwon Infant Study (BIS) is a population-derived birth cohort study (n = 1074 infants) with antenatal recruitment, conducted in the south-east of Australia (Victoria). BIS has been designed to facilitate a detailed mechanistic investigation of development within an epidemiological framework. The broad objectives are to investigate the role of specific environmental factors, gut microbiota and epigenetic variation in early-life development, and subsequent immune, allergic, cardiovascular, respiratory and neurodevelopmental outcomes. Participants have been reviewed at birth and at 1, 6, 9 and 12 months, with 2- and 4-year reviews under way. Biological samples and measures include: maternal blood, faeces and urine during pregnancy; infant urine, faeces and blood at regular intervals during the first 4 years; lung function at 1 month and 4 years; cardiovascular assessment at 1 month and 4 years; skin-prick allergy testing and food challenge at 1 year; and neurodevelopmental assessment at 9 months, 2 and 4 years. Data access enquiries can be made at [www.barwoninfantstudy.org.au] or via [firstname.lastname@example.org]. © The Author 2015; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association.International Journal of Epidemiology 03/2015; 44(4). DOI:10.1093/ije/dyv026 · 9.18 Impact Factor
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ABSTRACT: The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period, while asymptomatic, permits early treatment and restoration of a functional immune system. SCID was the first immunodeficiency disease to be added to the Recommended Uniform Screening Panel of Core Conditions in the United States in 2010, and it is now implemented in 26 states in the U.S. This review covers the development of newborn screening for SCID, the biology of the TREC test, its current implementation in the U.S., new findings for SCID in the newborn screening era, and future directions. Copyright © 2015 Elsevier Inc. All rights reserved.Seminars in perinatology 04/2015; 39(3). DOI:10.1053/j.semperi.2015.03.004 · 2.68 Impact Factor
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