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Article

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2017

Pavey Ashleigh R, Bodian Dale L, Vilboux Thierry, Khromykh Alina, Hauser Natalie S, Huddleston Kathi, Klein Elisabeth, Black Aaron, Kane Megan S, Iyer Ramaswamy K, Niederhuber John E, Solomon Benjamin D

Abstract excerpt

PurposeImmunodeficiency screening has been added to many state-directed newborn screening programs. The current methodology is limited to screening for severe T-cell lymphopenia disorders. We evaluated the potential of genomic sequencing to augment current newborn screening for immunodeficiency, including identification of non-T cell disorders.MethodsWe analyzed whole-genome sequencing (WGS) and clinical data...

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PMID: 28617419
DOI: 10.1038/gim.2017.57

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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