Scientific article
English

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

Published inScience, vol. 348, no. 6233, p. 448-453
Publication date2015
Abstract

Severe influenza disease strikes otherwise healthy children and remains unexplained. We report compound heterozygous null mutations in IRF7, which encodes the transcription factor interferon regulatory factor 7, in an otherwise healthy child who suffered life-threatening influenza during primary infection. In response to influenza virus, the patient's leukocytes and plasmacytoid dendritic cells produced very little type I and III interferons (IFNs). Moreover, the patient's dermal fibroblasts and induced pluripotent stem cell (iPSC)-derived pulmonary epithelial cells produced reduced amounts of type I IFN and displayed increased influenza virus replication. These findings suggest that IRF7-dependent amplification of type I and III IFNs is required for protection against primary infection by influenza virus in humans. They also show that severe influenza may result from single-gene inborn errors of immunity.

Keywords
  • Child
  • Dendritic Cells/immunology
  • Female
  • Fibroblasts/immunology
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells/immunology
  • Influenza A Virus, H1N1 Subtype
  • Influenza, Human/complications/genetics/immunology
  • Interferon Regulatory Factor-7/genetics
  • Interferon Type I/biosynthesis/genetics
  • Leukocytes/immunology
  • Lung/immunology
  • Mutation
  • Respiratory Distress Syndrome, Adult/genetics/immunology/virology
  • Respiratory Mucosa/immunology
Citation (ISO format)
CIANCANELLI, Michael J et al. Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. In: Science, 2015, vol. 348, n° 6233, p. 448–453. doi: 10.1126/science.aaa1578
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0036-8075
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