{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.",
    "Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.",
    "Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.",
    "Laboratory of Immunology and Molecular Medicine, Advanced Research Initiative, Institute of Science Tokyo, Tokyo, Japan.",
    "Department of Pediatrics, Neonatal and Maternal Medicine, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.",
    "Department of Lifelong Immunotherapy, Institute of Biomedical Engineering, Institute of Science Tokyo, Tokyo, Japan.",
    "Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 19,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Hitoshi Irabu",
      "orcid": "0000-0003-4370-4975"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Madoka Nishimura",
      "orcid": "0009-0007-6030-8567"
    },
    {
      "affs": [
        2
      ],
      "name": "Fumiaki Sakura",
      "orcid": "0009-0000-8672-8868"
    },
    {
      "affs": [
        2
      ],
      "name": "Takaki Asano",
      "orcid": "0000-0003-1424-2433"
    },
    {
      "affs": [
        0
      ],
      "name": "Maho Hatano",
      "orcid": "0000-0002-8261-5812"
    },
    {
      "affs": [
        0
      ],
      "name": "Futaba Miyaoka"
    },
    {
      "affs": [
        0
      ],
      "name": "Shuya Kaneko",
      "orcid": "0000-0002-8840-5373"
    },
    {
      "affs": [
        0
      ],
      "name": "Asami Shimbo",
      "orcid": "0000-0002-5715-8509"
    },
    {
      "affs": [
        0
      ],
      "name": "Yuko Akutsu",
      "orcid": "0000-0003-0950-7265"
    },
    {
      "affs": [
        0
      ],
      "name": "Ryosuke Wakatsuki",
      "orcid": "0009-0000-3619-0895"
    },
    {
      "affs": [
        0
      ],
      "name": "Dan Tomomasa",
      "orcid": "0009-0003-3236-5098"
    },
    {
      "affs": [
        3
      ],
      "name": "Sanami Takada",
      "orcid": "0000-0002-3357-3185"
    },
    {
      "affs": [
        4
      ],
      "name": "Yuko Hayashi",
      "orcid": "0009-0009-2335-207X"
    },
    {
      "affs": [
        2
      ],
      "name": "Satoshi Okada",
      "orcid": "0000-0002-4622-5657"
    },
    {
      "affs": [
        5
      ],
      "name": "Masaaki Mori",
      "orcid": "0000-0003-2130-4866"
    },
    {
      "affs": [
        3
      ],
      "name": "Tomohiro Morio",
      "orcid": "0000-0002-9259-1025"
    },
    {
      "affs": [
        0
      ],
      "name": "Masatoshi Takagi",
      "orcid": "0000-0002-7580-9184"
    },
    {
      "affs": [
        6
      ],
      "name": "Hirokazu Kanegane",
      "orcid": "0000-0002-8696-9378"
    },
    {
      "affs": [
        4
      ],
      "name": "Masaki Shimizu",
      "orcid": "0000-0003-1077-7772"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0h75qrabqj2ke.bib",
  "cited_by": 0,
  "doi": "10.70962/jhi.20260098",
  "fulltext_url": "https://europepmc.org/articles/PMC13693552",
  "id": "0h75qrabqj2ke",
  "issns": [
    "3065-8993"
  ],
  "landing_url": "https://europepmc.org/article/MED/42912665",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "RC581-607"
    ],
    [
      "openalex",
      "2745|Systemic Lupus Erythematosus Research"
    ]
  ],
  "openalex": "W7223327801",
  "pdf_url": "https://europepmc.org/articles/PMC13693552?pdf=render",
  "pmcid": "PMC13693552",
  "pmid": "42912665",
  "published": "2026-10-23",
  "publisher": "Rockefeller University Press",
  "ris": "https://research.draconitic.com/paper/0h75qrabqj2ke.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:10Z",
      "native_id": "MED:42912665",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42912665"
    },
    {
      "first_seen": "2026-10-30T13:44:09Z",
      "native_id": "a3e136868c3b4e04b9b039c96f5786b0",
      "source": "doaj",
      "url": "https://doi.org/10.70962/jhi.20260098"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "journal-openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    },
    {
      "field": "medicine",
      "origin": "lcc:RC581-607",
      "subfield": "general"
    }
  ],
  "title": "Mosaic KRAS variants in childhood-onset systemic lupus erythematosus.",
  "title_text": "Mosaic KRAS variants in childhood-onset systemic lupus erythematosus.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:44:09Z",
  "url": "https://research.draconitic.com/paper/0h75qrabqj2ke",
  "venue": "Journal of human immunity",
  "versions": []
}