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Article

Next-generation sequencing for inborn errors of immunity.

Human immunology - 1 Nov 2021

Lee Kristy, Abraham Roshini S

Abstract excerpt

Inborn errors of immunity (IEIs) include several hundred gene defects affecting various components of the immune system. As with other constitutional disorders, next-generation sequencing (NGS) is a powerful tool for the diagnosis of these diseases. While NGS can provide molecular confirmation of disease in a patient with a suspected or classic phenotype, it can also identify new molecular defects of the immune...

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PMID: 33715910
DOI: 10.1016/j.humimm.2021.02.011

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