Work

Familial lupus associated with a P2RY8 variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus

Year: 2026

Type: article

Abstract: 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.

Source: Journal of Human Immunity

DOI: 10.70962/jhi.20260007

Authors: Clémence David, Anne Welfringer-Morin, Luis Seabra, Yanick J. Crow, Marie Jachiet, Marie-Louise Frémond

Institutions: Inserm, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Bichat-Claude-Bernard, Institut des Maladies Génétiques Imagine, Hôpital Necker-Enfants Malades, Institute of Genetics and Cancer, MRC Human Genetics Unit, University of Edinburgh, Hôpital Saint-Louis

Language: English

Topic: Systemic Lupus Erythematosus Research

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

Funders: Agence Nationale de la Recherche, Fondation Bettencourt Schueller, Medical Research Council, European Research Council

Awards: G250961418, G42150247, G5485624415, G7240651115, Genetic disorders of human neurological and immune function

OpenAlex ID: W7141267111

FWCI: 4.814

Cites: 5

Cited by: 1

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