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March 29, 2026Journal of Human Immunity1 citationsOpen Access

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

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CDClémence Bégo DavidAWA. Welfringer-MorinLSLuís Seabra

Key Points

  • To investigate the role of a P2RY8 variant in familial lupus and its implications for disease susceptibility.
  • Identified heterozygous P2RY8 E323G substitution in affected family members.
  • Analyzed type I interferon signaling levels in subjects.
  • P2RY8 E323G substitution was found in both father and son.
  • Increased type I interferon signaling was observed in affected individuals.

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.

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Cite This Study

David et al. (2026) studied this question.

synapsesocial.com/papers/69c8c2b8de0f0f753b39d236https://doi.org/10.70962/jhi.20260007
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