Lung Involvement in Children with Hereditary Autoinflammatory Disorders

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Hereditary autoinflammatory disorders (HAIDs) are characterized by innate immune system dysregulation leading to systemic inflammation.
• While multi-organ involvement is common, pulmonary manifestations are infrequent in pediatric HAIDs.

Purpose of the Study:

• To review the spectrum of pleuropulmonary diseases in children with HAIDs.
• To highlight the genetic basis and clinical variability of lung involvement in specific HAIDs.

Main Methods:

• Literature review focusing on pediatric HAIDs with documented lung involvement.
• Analysis of genetic mutations associated with pulmonary manifestations in familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and STING-associated vasculopathy with onset in infancy (SAVI).

Main Results:

• Pleuritis is the most common pulmonary finding in FMF (MEFV gene) and TRAPS (TNFRSF1A gene).
• Interstitial lung disease is observed in SAVI (TMEM173 gene).
• The severity ranges from subclinical during flares to life-threatening conditions in SAVI.

Conclusions:

• Pulmonary involvement in pediatric HAIDs, though uncommon, presents with distinct phenotypes like pleuritis and interstitial lung disease.
• Genetic mutations in MEFV, TNFRSF1A, and TMEM173 underlie these pleuropulmonary manifestations.
• Early recognition and management are crucial, especially in severe cases like SAVI.