DOI: 10.70962/jhi.20260098 ISSN: 3065-8993
Mosaic KRAS variants in childhood-onset systemic lupus erythematosus
Hitoshi Irabu, Madoka Nishimura, Fumiaki Sakura, Takaki Asano, Maho Hatano, Futaba Miyaoka, Shuya Kaneko, Asami Shimbo, Yuko Akutsu, Ryosuke Wakatsuki, Dan Tomomasa, Sanami Takada, Yuko Hayashi, Satoshi Okada, Masaaki Mori, Tomohiro Morio, Masatoshi Takagi, Hirokazu Kanegane, Masaki ShimizuClinical targeted sequencing identified low-VAF KRAS variants in two of 26 children with childhood-onset systemic lupus erythematosus (SLE). Both had severe inflammatory manifestations but lacked Noonan syndrome features, and neither developed persistent lymphoproliferation suggestive of RAS-associated autoimmune lymphoproliferative disease during follow-up. These findings suggest that KRAS mosaicism may contribute to the development or severity of childhood-onset SLE.