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Lung involvement in monogenic interferonopathies.

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Monogenic type I interferonopathies can cause lung inflammation, presenting diagnostic challenges due to varied symptoms. Early diagnosis and a multidisciplinary approach are crucial for managing these rare genetic disorders.

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Area of Science:

  • Immunology
  • Genetics
  • Pulmonology

Background:

  • Monogenic type I interferonopathies are inherited disorders causing systemic inflammation due to constant type I interferon (IFN) activation.
  • The lungs are increasingly recognized as a primary target organ in these conditions, with manifestations like interstitial lung disease and pulmonary arterial hypertension.
  • Diagnosis can be difficult due to subtle or absent respiratory symptoms and variable extrapulmonary signs.

Purpose of the Study:

  • To highlight the lung as a key target organ in monogenic type I interferonopathies.
  • To emphasize the diagnostic challenges associated with pulmonary involvement.
  • To advocate for a multidisciplinary approach and awareness among pulmonologists for timely diagnosis and treatment.

Main Methods:

  • Review of clinical reports and literature on monogenic type I interferonopathies with pulmonary involvement.
  • Analysis of common and atypical presentations of lung disease in affected children.
  • Discussion of diagnostic considerations and therapeutic strategies.

Main Results:

  • Pulmonary manifestations include interstitial lung diseases and pulmonary arterial hypertension.
  • Respiratory symptoms may be mild, absent, or delayed, complicating early detection.
  • Extrapulmonary features can precede lung impairment, or severe lung disease may occur without apparent systemic signs.

Conclusions:

  • A multidisciplinary approach involving pulmonologists, pediatricians, and rheumatologists is essential for suspected monogenic interferonopathies.
  • Pulmonologists must be aware of characteristic lung disease patterns for prompt diagnosis.
  • Janus kinase (JAK)-1/2 inhibitors represent a promising therapeutic strategy by targeting the type I IFN pathway.