Familial lupus associated with a <i>P2RY8</i> variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus
Identification of a heterozygous P2RY8 E323G substitution in a father and son with cutaneous lupus and enhanced type I interferon signaling supports a role for P2RY8 in lupus causation and highlights the overlap between Mendelian disease and complex genetic susceptibility.
Authors
- M. Jachiet
- Luís Seabra (ORCID: https://orcid.org/0000-0002-4678-3026)
- Clémence Bégo David
- A. Welfringer-Morin
- Marie-Louise Frémond
- Yanick J. Crow
Institutions
- Inserm (FR)
- Université Paris Cité (FR)
- Saint Louis University Hospital (US)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Bichat-Claude-Bernard (FR)
- Institute of Genetics and Cancer (GB)
- Institut des Maladies Génétiques Imagine (FR)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2026-03-27
- DOI
- https://doi.org/10.70962/jhi.20260007
- Primary Topic
- Systemic Lupus Erythematosus Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00