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Related Experiment Video

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Imaging findings in pediatric interferonopathies.

Yuko Tsujioka1, Gen Nishimura2,3, Shinya Hattori4

  • 1Department of Radiology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. yuko.tsujioka@keio.jp.

Pediatric Radiology
|May 23, 2026
PubMed
Summary

Type I interferon (IFN-I) dysregulation causes autoinflammatory interferonopathies, characterized by sterile inflammation and unique clinical features. These disorders bridge autoinflammation and autoimmunity, impacting various organs.

Keywords:
Aicardi–Goutières syndromeAutoimmune interferonopathiesAutoinflammatory diseaseJuvenile dermatomyositisPediatric imagingSystemic lupus erythematosus

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Type I interferon (IFN-I) is vital for antiviral defense but its dysregulation leads to autoinflammatory interferonopathies.
  • These disorders arise from genetic defects causing aberrant IFN-I production (IFN signature) and sterile inflammation.
  • Interferonopathies span a continuum from autoinflammatory to autoimmune diseases, including Aicardi-Goutières syndrome and systemic lupus erythematosus.

Purpose of the Study:

  • To outline the clinical, imaging, and pathogenic features of pediatric interferonopathies.
  • To highlight the common pathophysiological patterns underlying diverse interferonopathies.
  • To emphasize the role of the IFN signature in both autoinflammatory and autoimmune conditions.

Main Methods:

  • Review of clinical manifestations in pediatric interferonopathies.
  • Analysis of characteristic imaging findings.
  • Discussion of underlying pathogenic mechanisms related to IFN-I signaling.

Main Results:

  • Interferonopathies present with variable combinations of cutaneous, neurological, vascular, and lung abnormalities.
  • Distinctive imaging findings are observed, yet common patterns reflect shared pathophysiology.
  • The IFN signature is implicated in both monogenic autoinflammatory and common autoimmune diseases.

Conclusions:

  • Interferonopathies represent a spectrum of immune-mediated diseases driven by IFN-I dysregulation.
  • Understanding these disorders provides a novel framework for immune-mediated diseases.
  • Pediatric interferonopathies share common pathophysiological underpinnings despite varied clinical presentations.