What question did this study set out to answer?

To investigate the clinical manifestations and treatment responses in siblings with a novel C1QB pathogenic variant.

January 25, 2026Open Access

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

Abstract

We report vasculitis and interstitial lung disease in two siblings with a novel C1QB pathogenic variant. Patients responded to rituximab + tacrolimus or baricitinib. This report broadens the genotypic and phenotypic landscape of C1Q deficiency and extends on the similarities with other type 1 interferonopathies.

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