Screening newborns for primary T-cell immunodeficiencies: consensus and controversy

Pedersen, Deborah J Accetta; Verbsky, James; Routes, John M.

doi:10.1586/eci.11.25

Expert Review of Clinical Immunology

2011

DOI: 10.1586/eci.11.25

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Screening newborns for primary T-cell immunodeficiencies: consensus and controversy

Deborah J Accetta Pedersen

James Verbsky

John M. Routes

Abstract: Newborn screening for early identification of T-cell lymphopenia and severe combined immunodeficiency has recently been recommended as an addition to the newborn screening programs in all states. This article will review the evidence supporting the use of this newborn screening test, and will outline the barriers to nationwide implementation, which include issues specific to this test and controversies regarding newborn screening in general.

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Cited by 9 publications

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“…The NBS program in Ontario, Canada, has been successfully implemented since 2013 (Cross 2013). The basis behind the successful NBS for SCID is the T cell receptor excision circles (TREC) assay (Accetta Pedersen et al 2011). This assay involves an RT-PCR reaction to detect a TREC, which is a physiological byproduct of the V(D)J recombination process occurring in maturing thymocytes.…”

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Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency

2019

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Introduction: Coronin 1A belongs to a large family of actin regulatory proteins with a role in T cell homeostasis. A role for coronin 1A was also observed in macrophages, NK, and neuronal cells. To date, coronin 1A deficiency has been described in relatively few patients with combined immunodeficiency. Aim: We studied here the molecular and genetic basis of immunodeficiency detected by newborn screening for severe combined immunodeficiency. Methods: Patient data was collected in accordance with REB approved protocols. Immune work up, including T and B cell proliferative responses and serum concentrations of immunoglobulins, was performed. Next generation sequencing techniques and cellular analyses were also utilized. Results: The patient presented with T cell lymphopenia, reduction in CD4+CD45Ra+ cells and hypogammaglobulinemia. Uniquely, she also had persistent severe neutropenia. Whole exome sequencing and Sanger confirmation revealed a novel homozygous mutation in coronin 1A. Conclusion: Coronin 1A deficiency can be detected after birth by T cell receptor excision circle-based newborn screening. Statement of novelty: We report here a patient with a novel mutation in coronin 1A, identified during newborn screening with low T cell receptor excision circle levels and neutropenia, which is a unique finding in this condition.

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Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency

2019

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Concurrent hearing and genetic screening in a general newborn population

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

et al. 2014

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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.

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Screening newborns for primary T-cell immunodeficiencies: consensus and controversy

Cited by 9 publications

References 54 publications

Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency

Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency

Concurrent hearing and genetic screening in a general newborn population

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

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