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

Wimwipa Mongkonsritragoon; Jenny Huang; Mary Fredrickson; Divya Seth; Pavadee Poowuttikul

doi:10.1177/11795565231162839

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

Clin Med Insights Pediatr. 2023 Mar 31:17:11795565231162839. doi: 10.1177/11795565231162839. eCollection 2023.

Authors

Wimwipa Mongkonsritragoon^{1

2}, Jenny Huang^{1

2}, Mary Fredrickson¹, Divya Seth^{1

2}, Pavadee Poowuttikul^{1

2}

Affiliations

¹ Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA.
² Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Central Michigan University College of Medicine, Mt. Pleasant, MI, USA.

Abstract

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.

Keywords: Severe combined immunodeficiency; T-cell receptor excision circle; lymphopenia; newborn screening; primary immunodeficiency.

Publication types

Review