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Abstract
Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation.
Highlights
Proceed as soon as the required pilot studies has demonstrated the added value of screening for SCID patients and cost effectiveness
The potential impact of NBS on treatment of SCID has been suggested by large registry studies conducted by the Primary Immune Deficiency Treatment Consortium (PIDTC) in North
Development of best practices for HCT approach to SCID patients identified by NBS is ongoing
Summary
The success of using dried blood spots (DBS) to measure blood phenylalanine levels and detect phenylketonuria at birth [5] relied on the stability of the analyte, the reproducibility, and low cost of the assay. TRECs will not be detected in case of the presence of maternally engrafted T-lymphocytes and in patients with Omenn Syndrome TRECs will be low/absent because of oligoclonal expansion of the autologous Tlymphocytes, which makes the TREC assay useful in these subforms of SCID. In the summary of results from 11 states and the Navajo nation, the incidence of SCID was 1 in 58,000 births based on 52 cases of SCID (42 typical, 9 leaky, 1 Omenn syndrome) in 3,030,083 screened [11]. This illustrates a broad range in incidence in the various countries [14]
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