SCID newborn screening: What we’ve learned - 04/02/21
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.
Le texte complet de cet article est disponible en PDF.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
| 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. |
Vol 147 - N° 2
P. 417-426 - février 2021 Retour au numéro
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