Biallelic IRF8 Mutations Causing NK Cell Deficiency

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

doi:10.1016/j.molmed.2017.01.007

Biallelic IRF8 Mutations Causing NK Cell Deficiency

Trends Mol Med. 2017 Mar;23(3):195-197. doi: 10.1016/j.molmed.2017.01.007. Epub 2017 Feb 2.

Authors

Alejandro López-Soto¹, Seila Lorenzo-Herrero², Segundo Gonzalez²

Affiliations

¹ Departamento de Biología Funcional, Inmunología, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain. Electronic address: [email protected].
² Departamento de Biología Funcional, Inmunología, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.

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

Abstract

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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MeSH terms

Communicable Diseases
Humans
Immunologic Deficiency Syndromes / genetics
Killer Cells, Natural*
Mutation*