John Routes1,2, James Verbsky3,4. 1. Department of Pediatrics, Medical College of Wisconsin, 9000 W Wisconsin Ave., Milwaukee, WI, 53226-4874, USA. jroutes@mcw.edu. 2. Division of Asthma, Allergy and Clinical Immunology, Medical College of Wisconsin, 9000 W Wisconsin Ave., Milwaukee, WI, 53226-4874, USA. jroutes@mcw.edu. 3. Department of Pediatrics, Medical College of Wisconsin, 9000 W Wisconsin Ave., Milwaukee, WI, 53226-4874, USA. 4. Division of Rheumatology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.
Abstract
PURPOSE OF REVIEW: This 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 FINDINGS: Currently, 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. Regardless of the genetic etiology, all forms of SCID are characterized by a severe deficiency of naïve 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.
PURPOSE OF REVIEW: This 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 FINDINGS: Currently, 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. Regardless of the genetic etiology, all forms of SCID are characterized by a severe deficiency of naïve 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.
Entities:
Keywords:
Hematopoietic stem cell transplantation; Newborn screening; Severe combined immunodeficiency; T cell lymphopenia; T cell receptor excision circle; TREC assay
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