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Mosaic KRAS variants in childhood-onset systemic lupus erythematosus

Year: 2026

Type: article

Abstract: Clinical 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.

Source: Journal of Human Immunity

DOI: 10.70962/jhi.20260098

Authors: 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 Shimizu

Institutions: Institute of Science Tokyo, Kumamoto University, Hiroshima University, Institute of Biomedical Engineering (Japan)

Language: English

Topic: Systemic Lupus Erythematosus Research

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

Funders: Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

Award: Immunological Reclassification of Childhood Onset Systemic Lupus Erythematosus Toward Personalized Medicine

OpenAlex ID: W7223327801

FWCI:

Cites: 5

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Related to: 10