Newborn screening for SCID: where are we now?

Buelow, Becky J.; Routes, John M.; Verbsky, James

doi:10.1586/1744666x.2014.980816

Cited by 8 publications

(3 citation statements)

References 40 publications

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“…TREC newborn screening for SCID has a sensitivity as high as 100% but a positive predictive value is only at 0.8% to 18%, depending on the cut-off value. 39 , 40 Low TREC copies indicate T-cell lymphopenia, and can be seen in any condition with decreased T-cell production, not only SCID. 6 In fact, most infants with positive TREC newborn screening did not have SCID but had T- cell lymphopenia that was related to other causes.…”

Section: Non-scid Etiologies Of T-cell Lymphopeniamentioning

confidence: 99%

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Mongkonsritragoon

Huang

Fredrickson

et al. 2023

Clin Med Insights Pediatr

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Severe combined immunodeficiency (SCID) is a group of diseases characterized by low T-cell count and impaired T-cell function, resulting in severe cellular and humoral immune defects. If not diagnosed and treated promptly, infants affected by this condition can develop severe infections which will result in death. Delayed treatment can markedly reduce the survival outcome of infants with SCID. T-cell receptor excision circle (TREC) levels are measured on newborn screening to promptly identify infants with SCID. It is important for primary care providers and pediatricians to understand the approach to managing infants with positive TREC-based newborn screening as they may be the first contact for infants with SCID. Primary care providers should be familiar with providing anticipatory guidance to the family in regard to protective isolation, measures to minimize the risk of infection, and the coordination of care with the SCID coordinating center team of specialists. In this article, we use case-based scenarios to review the principles of TREC-based newborn screening, the genetics and subtypes of SCID, and management for an infant with a positive TREC-based newborn screen.

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Section: Non-scid Etiologies Of T-cell Lymphopeniamentioning

confidence: 99%

Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?

Mongkonsritragoon

Huang

Fredrickson

et al. 2023

Clin Med Insights Pediatr

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“…SCID is characterized by severe T-cell lymphopenia and the disorder is fatal without early treatment [2]. Screening for SCID based on the quantification of T-cell receptor excision circles (TREC) in dried blood spot (DBS) samples has been implemented in newborn screening panels worldwide [3,4]. In the Danish Neonatal Screening Program, the quantification of TREC is performed by RealtimePCR with an assay that amplifies both TREC and a two-copy reference gen, RPP30.…”

Section: Introductionmentioning

confidence: 99%

Implementation of SCID Screening in Denmark

Bækvad-Hansen

Adamsen

Bybjerg‐Grauholm

et al. 2021

IJNS

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“…A series of different genetic variants are known to cause SCID. Mutations in recombinase activating genes 1 and 2 (RAG1 and RAG2) are the most common mutations of T-B-NK+ SCID (1). During the development of T and B cells, these genes are responsible for the rearrangements of the variable, diversity and joining segments of T-and B-cell receptors (2).…”

mentioning

confidence: 99%