Familial lupus associated with a variant: Navigating the boundary between monogenic disease and genetic susceptibility to lupus.
David C,Welfringer-Morin A,Seabra L,Crow Y,Jachiet M,Frémond M
Source :
2026 Mar 27
Pmid / DOI:
41909205
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.© 2026 David et al.