Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders Academic Article uri icon

Overview

MeSH Major

  • Immunologic Deficiency Syndromes

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.

authors

publication date

  • February 2, 2016

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC5222743

Digital Object Identifier (DOI)

  • 10.1016/j.jaci.2016.05.042

PubMed ID

  • 27577878

Additional Document Info