Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel <i>C1QB</i> pathogenic variant
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.
Authors
- H. Manganas
- Anaïs Nombel (ORCID: https://orcid.org/0009-0007-8564-9034)
- Hugo Chapdelaine (ORCID: https://orcid.org/0009-0005-4577-0329)
- C. Triaille
- Andréi-Bogdan Gorgos
- Éric Rich
- Philippe Roméo
- Guilhem Cros
Institutions
- Lyon College (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Hospices Civils de Lyon (FR)
- Hôpital Edouard Herriot (FR)
- Université de Montréal (CA)
- UCLouvain (BE)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2026-01-08
- DOI
- https://doi.org/10.70962/jhi.20250128
- Primary Topic
- Vasculitis and related conditions
- Type
- article
- Field-Weighted Citation Impact
- 0.00