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Biallelic IRF8 Mutations Causing NK Cell Deficiency.

Trends in molecular medicine - 1 Mar 2017

López-Soto Alejandro, Lorenzo-Herrero Seila, Gonzalez Segundo

Abstract excerpt

Human primary immunodeficiencies result in an exacerbated susceptibility to contracting infectious diseases. Recent work by Mace et al., published in the Journal of Clinical Investigation, unveils a novel genetic cause for the development of familial natural killer (NK) cell deficiency: a biallelic compound heterozygous mutation in IRF8, which leads to impaired NK cell development and cytotoxic activity.

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PMID: 28162909
DOI: 10.1016/j.molmed.2017.01.007

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