Biallelic IRF8 Mutations Causing NK Cell Deficiency.
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.
Departamento de Biología Funcional, Inmunología, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain. Electronic address: lopezsalejandro@uniovi.es.
Alejandro
A
López-Soto
Departamento de Biología Funcional, Inmunología, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Seila
S
Lorenzo-Herrero
Departamento de Biología Funcional, Inmunología, Facultad de Medicina, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Segundo
S
Gonzalez
D003141:Communicable Diseases; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007694:Killer Cells, Natural; D009154:Mutation