SCID newborn screening: What we’ve learned - 04/02/21

Doi : 10.1016/j.jaci.2020.10.020

Robert Currier, PhD, Jennifer M. Puck, MD ^⁎
Division of Allergy, Immunology and Blood and Marrow Transplantation, Department of Pediatrics, University of California San Francisco School of Medicine and UCSF Benioff Children’s Hospital San Francisco, San Francisco, Calif

^∗Corresponding author: Jennifer M. Puck, MD, Division of Allergy/Immunology and Blood and Marrow Transplantation, Department of Pediatrics, Box 3118, Smith Cardiovascular Research Institute, University of California San Francisco School of Medicine, 555 Mission Bay Blvd South, Rm SC-252K, San Francisco, CA 94143.Division of Allergy/Immunology and Blood and Marrow TransplantationDepartment of PediatricsBox 3118Smith Cardiovascular Research InstituteUniversity of California San Francisco School of Medicine555 Mission Bay Blvd SouthRm SC-252KSan FranciscoCA94143

Abstract

Newborn screening for severe combined immunodeficiency, the most profound form of primary immune system defects, has long been recognized as a measure that would decrease morbidity and improve outcomes by helping patients avoid devastating infections and receive prompt immune-restoring therapy. The T-cell receptor excision circle test, developed in 2005, proved to be successful in pilot studies starting in the period 2008 to 2010, and by 2019 all states in the United States had adopted versions of it in their public health programs. Introduction of newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has drastically changed the presentation of this disorder while providing important lessons for public health programs, immunologists, and transplanters.

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Key words : Primary immunodeficiency, T-cell receptor excision circle (TREC), severe combined immunodeficiency (SCID), lymphopenia, dried blood spot, newborn screening

Abbreviations used : ADA, CMV, DBS, HCT, KREC, NBS, NICU, qPCR, RAG, SCID, SMN, TCL, TCR, TREC, WES

Plan

The TREC assay

TREC suitability as an NBS test

Follow-up for abnormal TREC test results

Etiology of T-cell lymphopenia in TREC-positive newborns

Severe combined immunodeficiency

Genetic syndromes

T-cell lymphopenia secondary to medical problems

Prematurity

Idiopathic T-cell lymphopenia

Future directions

J. M. Puck received support from the Primary Immune Deficiency Treatment Consortium, the National Institute of Allergy and Infectious Diseases and the National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland (cooperative agreement no. U54-AI082973); the Jeffrey Modell Foundation; the Lisa and Douglas Goldman Fund; and the Michelle Platt-Ross Foundation.