Marion Moreews, Anne-Laure Mathieu, Kevin Pouxvielh, Quentin Reuschlé, Annabelle Drouillard, Pénélope Dessay, Marie Meignien, Jiang Zhang, Lucie Fallone, Noëmi Rousseaux, Michelle Ainouze, Amaury Rey, Ommar Omarjee, Elodie Decembre, Vanina Lenief, Sophia Djebali, Olivier Thaunat, Marlène Dreux, Laurent Genestier, Thierry Defrance, Pauline Soulas-Sprauel, Antoine Marçais, Thierry Walzer, Alexandre Belot
Autosomal recessive PRKCD deficiency has previously been associated with the development of systemic lupus erythematosus in human patients, but the mechanisms underlying autoimmunity remain poorly understood. We introduced the Prkcd G510S mutation that we previously associated to a Mendelian cause of systemic lupus erythematosus in the mouse genome, using CRISPR-Cas9 gene editing. PrkcdG510S/G510S mice recapitulated the human phenotype and had reduced lifespan. We demonstrate that this phenotype is linked to a B cell-autonomous role of Prkcd...
March 24, 2023: Journal of Immunology