Newborn Screening for Severe Combined Immunodeficiency

AbstractPurpose of ReviewThis review provides a brief history of newborn screening (NBS) for severe combined immunodeficiency (SCID), discusses the theoretical basis for the T cell receptor excision circle (TREC) assay, highlights the results of recent studies using the TREC, and provides practical advice for the evaluation of infants with an abnormal TREC assay.Recent FindingsCurrently, all but three states perform NBS for SCID in the USA. NBS using the TREC assay is highly sensitive in identifying infants with SCID and may also identify infants with T cell lymphopenia due to other causes such as congenital syndromes, multiple congenital anamolies, and some combined immunodeficiencies.SummaryRegardless of the genetic etiology, all forms of SCID are characterized by a severe deficiency of na ïve T cells. TRECs are a biomarker of newly formed, naïve T cells that have recently left the thymus. Consequently, the TREC assay identifies infants with SCID and other causes of severe T cell lymphopenia.
Source: Current Allergy and Asthma Reports - Category: Allergy & Immunology Source Type: research