Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel C1QB pathogenic variant

Key Points

• To investigate the clinical manifestations and treatment responses in siblings with a novel C1QB pathogenic variant.
• Detailed clinical assessment of siblings
• Genetic analysis to identify C1QB variant
• Evaluation of treatment responses to rituximab + tacrolimus or baricitinib
• Both siblings exhibited severe pulmonary involvement and vasculitis
• Significant expression of interferon-stimulated genes was noted
• Treatment with rituximab + tacrolimus or baricitinib resulted in positive responses