Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Article ID	Journal	Published Year	Pages	File Type
5647188	Journal of Allergy and Clinical Immunology	2017	89 Pages	PDF

Abstract

This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Keywords

CMA PIDD OMIM HGMD SNV CVID CNV WES HSCT MLPA SCID WGS MAF BCM ExAC Autosomal Dominant Autosomal recessive Primary immunodeficiency disease Chromosomal microarray analysis multiplex ligation-dependent probe amplification Whole-exome sequencing Whole-genome sequencing Alps autoimmune lymphoproliferative syndrome Copy number variants minor allele frequency Copy number variant CVID, common variable immunodeficiency SCID, Severe combined immunodeficiency Online Mendelian Inheritance in Man Human Gene Mutation Database Hematopoietic stem cell transplantation Baylor College of Medicine Exome Aggregation Consortium single nucleotide variant

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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Authors

AsbjÃ¸rg MD, PhD, Hanne SÃ¸rmo MS, Pubudu MS, Tomasz PhD, Ivan K. MD, Zeynep H. PhD, Hans Christian MD, PhD, Lisa R. MD, Shen PhD, Bo PhD, Shalini N. MS, Donna M. MS, Olaug Kristin PhD, Ying PhD, Sarah K. MD, PhD, Lenora M. MD, MPH, Filiz O. MD, MPH,