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Newborn Screening for Severe Combined Immunodeficiency

  • Pediatric Allergy and Immunology (W Dolen, Section Editor)
  • Published:
Current Allergy and Asthma Reports Aims and scope Submit manuscript

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.

Summary

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.

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Abbreviations

NBS:

Newborn screening

HHS:

Health and Human Services

HSCT:

Hematopoietic stem cell transplantation

SCID:

Severe combined immunodeficiency

TREC:

T cell receptor excision circle

SACHDNC:

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

TCR:

T cell receptor

qRT-PCR:

Quantitative, real-time polymerase chain reaction

RUSP:

Recommended Uniform Screening Panel

References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Acknowledgements

The authors are grateful for the support provided by the Jeffrey Modell Foundation and Children’s Hospital of Wisconsin Foundation in funding the initial statewide, newborn screening for SCID in WI and Emma Cook for her expert editing of the manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, Medical College of Wisconsin, 9000 W Wisconsin Ave., Milwaukee, WI, 53226-4874, USA

    John Routes & James Verbsky

  2. Division of Asthma, Allergy and Clinical Immunology, Medical College of Wisconsin, 9000 W Wisconsin Ave., Milwaukee, WI, 53226-4874, USA

    John Routes

  3. Division of Rheumatology, Medical College of Wisconsin, Milwaukee, WI, 53226, USA

    James Verbsky

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  1. John Routes
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Correspondence to John Routes.

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The authors declare no conflicts of interest relevant to this manuscript.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Pediatric Allergy and Immunology

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Routes, J., Verbsky, J. Newborn Screening for Severe Combined Immunodeficiency. Curr Allergy Asthma Rep 18, 34 (2018). https://doi.org/10.1007/s11882-018-0783-9

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  • DOI: https://doi.org/10.1007/s11882-018-0783-9

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