Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5646670 | Journal of Allergy and Clinical Immunology | 2016 | 12 Pages |
Abstract
High-throughput deep sequencing analysis with complete clinical validation greatly increases the diagnostic yield of severe primary immunodeficiency. Establishing a molecular diagnosis enables early immune reconstitution through prompt therapeutic intervention and guides management for improved long-term quality of life.
Keywords
CNVSCIDCGHDGsSNVAtaxia telangiectasiaPIDDnatural killerTRECPrimary immunodeficiency diseasecomparative genomic hybridizationMolecular diagnosticsNext-generation sequencingT-cell receptor excision circleDiGeorge SyndromechargeCopy number variantSCID, Severe combined immunodeficiencysingle nucleotide variant
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Authors
Hui PhD, Victor Wei MD, PhD, Asbjørg MD, PhD, Imelda Celine MD, Lisa R. MD, M. Teresa MD, Ivan K. MD, Elizabeth PhD, Nancy J. MD, Tamara MD, PhD, Wojciech MD, PhD, Sarah K. MD, Anne B. MD, Lindsey E. DO, Knut Erik MD, PhD, Hanne MS, Diana K. DO,