A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

J Clin Invest. 2024 May 16;134(13):e179193. doi: 10.1172/JCI179193.
No abstract available

Keywords: Autoimmunity; Immunology; Lupus; Monogenic diseases; Stem cell transplantation.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Gain of Function Mutation*
  • Humans
  • Infant
  • Lupus Erythematosus, Systemic* / genetics
  • Lupus Erythematosus, Systemic* / pathology
  • Male
  • Toll-Like Receptor 7* / genetics

Substances

  • Toll-Like Receptor 7
  • TLR7 protein, human