Abstract
This report illustrates the value of whole genome sequencing (WGS) in elucidating the genetic cause of disease in patients with primary immunodeficiency (PID). As sequencing costs decline, we predict that utilization of next generation sequencing (NGS) in the clinical setting will increase.
Publication types
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Alternative Splicing
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B-Lymphocytes / immunology
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B-Lymphocytes / pathology
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Base Sequence
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Child
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DNA-Binding Proteins
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Endonucleases
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Exons
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Female
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Genome, Human*
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High-Throughput Nucleotide Sequencing
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Humans
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Immunoglobulin A / genetics
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Immunoglobulin G / genetics
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Immunologic Deficiency Syndromes / diagnosis
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Immunologic Deficiency Syndromes / genetics*
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Immunologic Deficiency Syndromes / immunology
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Immunologic Deficiency Syndromes / pathology
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Killer Cells, Natural / immunology
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Killer Cells, Natural / pathology
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Lymphocyte Count
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Male
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Molecular Sequence Data
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Mutation*
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NADPH Oxidases / genetics*
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NADPH Oxidases / immunology
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Nuclear Proteins / genetics*
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Nuclear Proteins / immunology
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T-Lymphocytes / immunology
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T-Lymphocytes / pathology
Substances
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DNA-Binding Proteins
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Immunoglobulin A
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Immunoglobulin G
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Nuclear Proteins
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NADPH Oxidases
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neutrophil cytosolic factor 1
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DCLRE1C protein, human
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Endonucleases