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Peer-reviewedCC BYJournal of human immunity

Mosaic KRAS variants in childhood-onset systemic lupus erythematosus.

  • Hitoshi Irabu1
  • Madoka Nishimura1,2
  • Fumiaki Sakura3
  • Takaki Asano3
  • Maho Hatano1
  • Futaba Miyaoka1
  • Shuya Kaneko1
  • Asami Shimbo1
  • Yuko Akutsu1
  • Ryosuke Wakatsuki1
  • Dan Tomomasa1
  • Sanami Takada4
7 more authors
  • Yuko Hayashi5
  • Satoshi Okada3
  • Masaaki Mori6
  • Tomohiro Morio4
  • Masatoshi Takagi1
  • Hirokazu Kanegane7
  • Masaki Shimizu5
7 affiliations
  1. 1Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
  2. 2Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  3. 3Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
  4. 4Laboratory of Immunology and Molecular Medicine, Advanced Research Initiative, Institute of Science Tokyo, Tokyo, Japan.
  5. 5Department of Pediatrics, Neonatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
  6. 6Department of Lifelong Immunotherapy, Institute of Biomedical Engineering, Institute of Science Tokyo, Tokyo, Japan.
  7. 7Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
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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.

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Cite

BibTeXRIS
BibTeX
@article{irabu2026mosaic,
  title = {{Mosaic KRAS variants in childhood-onset systemic lupus erythematosus.}},
  author = {Hitoshi Irabu and Madoka Nishimura and Fumiaki Sakura and Takaki Asano and Maho Hatano and Futaba Miyaoka and Shuya Kaneko and Asami Shimbo and Yuko Akutsu and Ryosuke Wakatsuki and Dan Tomomasa and Sanami Takada and Yuko Hayashi and Satoshi Okada and Masaaki Mori and Tomohiro Morio and Masatoshi Takagi and Hirokazu Kanegane and Masaki Shimizu},
  journal = {Journal of human immunity},
  year = {2026},
  month = oct,
  doi = {10.70962/jhi.20260098},
  url = {https://europepmc.org/article/MED/42912665},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Mosaic KRAS variants in childhood-onset systemic lupus erythematosus.
AU  - Hitoshi Irabu
AU  - Madoka Nishimura
AU  - Fumiaki Sakura
AU  - Takaki Asano
AU  - Maho Hatano
AU  - Futaba Miyaoka
AU  - Shuya Kaneko
AU  - Asami Shimbo
AU  - Yuko Akutsu
AU  - Ryosuke Wakatsuki
AU  - Dan Tomomasa
AU  - Sanami Takada
AU  - Yuko Hayashi
AU  - Satoshi Okada
AU  - Masaaki Mori
AU  - Tomohiro Morio
AU  - Masatoshi Takagi
AU  - Hirokazu Kanegane
AU  - Masaki Shimizu
PY  - 2026
DA  - 2026/10/23
JO  - Journal of human immunity
DO  - 10.70962/jhi.20260098
UR  - https://europepmc.org/article/MED/42912665
AB  - 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.
SN  - 3065-8993
ER  -