Clinical application of whole-genome sequencing in patients with primary immunodeficiency

Of note, the commercial NCF1 screen examined mutations only in exon 2, which harbors the 2GT deletion that causes most reported cases of NCF1-related chronic granulomatous disease.4 WGS revealed a homozygous 579G>A substitution causing a premature stop codon (Trp193X) in NCF1 that had previously...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2015-08, Vol.136 (2), p.476-479.e6
Hauptverfasser:	Mousallem, Talal, MD, Urban, Thomas J., PharmD, PhD, McSweeney, K. Melodi, BS, Kleinstein, Sarah E., MS, Zhu, Mingfu, PhD, Adeli, Mehdi, MD, Parrott, Roberta E., BS, Roberts, Joseph L., MD, PhD, Krueger, Brian, PhD, Buckley, Rebecca H., MD, Goldstein, David B., PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Allergy and Immunology Alternative Splicing B-Lymphocytes - immunology B-Lymphocytes - pathology Base Sequence Child Disease Endonucleases Exons Female Flow cytometry Genes Genetic counseling Genome, Human Genomes High-Throughput Nucleotide Sequencing Humans Immunoglobulin A - genetics Immunoglobulin G - genetics Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - immunology Immunologic Deficiency Syndromes - pathology Infections Killer Cells, Natural - immunology Killer Cells, Natural - pathology Laboratories Ligands Lymphocyte Count Male Molecular Sequence Data Mutagenesis Mutation NADPH Oxidases - genetics NADPH Oxidases - immunology Nuclear Proteins - genetics Nuclear Proteins - immunology Patients Protein expression T-Lymphocytes - immunology T-Lymphocytes - pathology
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