Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel C1QB
Clément Triaille1,2, Guilhem Cros3, Andrei-Bogdan Gorgos4
1Department of Pediatrics, Pediatric Rheumatology and Immunology, CHU Sainte-Justine, Université de Montréal, Montreal, Canada.
Abstract:
Two siblings with a novel C1QB variant presented with severe pulmonary vasculitis and elevated interferon-stimulated gene expression. The findings suggest that hereditary C1q deficiency can manifest with life-threatening lung involvement driven by dysregulated type I interferon signaling.
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