{
  "abstract": "X-linked hyper-IgM syndrome (XHIGM) is an inborn error of immunity caused by variants in the CD40LG gene, leading to disrupted T-cell function and impaired immunoglobulin class-switch recombination. Supportive care alone is linked to unfavorable outcomes, necessitating allogeneic hematopoietic cell transplantation (HCT) as a curative option. Although myeloablative conditioning is recommended for HCT, concerns remain regarding its toxicity. We reviewed ten patients with XHIGM who underwent HCT using reduced-toxicity conditioning (RTC) at our institution between 2010 and 2024. All patients underwent HCT by 5 years of age (range: 2–5 years; median: 3 years). Donor sources included unrelated bone marrow, unrelated cord blood, and haploidentical-related donors. Conditioning primarily consisted of fludarabine and busulfan (target area under the curve: 60–65 mg/L·h), with low-dose total body irradiation (TBI) administered in five patients. Two patients experienced graft failure, requiring a second transplantation, and one died from post-transplant complications. The remaining nine patients survived. The 5-year overall survival rate was 88.9%; the 5-year graft-versus-host disease-free, relapse-free, and second transplantation-free survival rate was 67.5%. The addition of low-dose TBI to fludarabine/busulfan was associated with favorable long-term donor chimerism, although this finding should be considered hypothesis-generating. RTC may represent a feasible conditioning strategy for XHIGM.\n\nSupplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s12185-026-04245-8.",
  "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 Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519 Japan",
    "Department of Pediatrics, National Defense Medical College, Saitama, Japan",
    "Center for Transfusion Medicine and Cell Therapy, Institute of Science Tokyo Hospital, Tokyo, Japan",
    "Laboratory of Immunology and Molecular Medicine, Institute of Science Tokyo, Tokyo, Japan"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 17,
  "authors": [
    {
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        0
      ],
      "name": "Ryosuke Wakatsuki"
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    {
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      "name": "Satoshi Miyamoto"
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    {
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        1
      ],
      "name": "Akihiro Hoshino"
    },
    {
      "affs": [
        0
      ],
      "name": "Shuhei Takahashi"
    },
    {
      "affs": [
        0
      ],
      "name": "Yusuke Ishibashi"
    },
    {
      "affs": [
        0
      ],
      "name": "Ryohei Watanabe"
    },
    {
      "affs": [
        0
      ],
      "name": "Tatsuya Magara"
    },
    {
      "affs": [
        0
      ],
      "name": "Dan Tomomasa"
    },
    {
      "affs": [
        0
      ],
      "name": "Akira Nishimura"
    },
    {
      "affs": [
        0
      ],
      "name": "Kyogo Suzuki"
    },
    {
      "affs": [
        0
      ],
      "name": "Takahiro Kamiya"
    },
    {
      "affs": [
        0
      ],
      "name": "Takeshi Isoda"
    },
    {
      "affs": [
        2
      ],
      "name": "Kohsuke Imai"
    },
    {
      "affs": [
        3
      ],
      "name": "Michiko Kajiwara"
    },
    {
      "affs": [
        4
      ],
      "name": "Tomohiro Morio"
    },
    {
      "affs": [
        0
      ],
      "name": "Masatoshi Takagi"
    },
    {
      "affs": [
        1
      ],
      "name": "Hirokazu Kanegane",
      "orcid": "0000-0002-8696-9378"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/a3wfvvm22kgjz.bib",
  "cited_by": 0,
  "doi": "10.1007/s12185-026-04245-8",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13719731/",
  "id": "a3wfvvm22kgjz",
  "issns": [
    "0925-5710",
    "1865-3774"
  ],
  "landing_url": "https://doi.org/10.1007/s12185-026-04245-8",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Article"
    ],
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      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
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  "openalex": "W7167615254",
  "pdf_url": "https://link.springer.com/content/pdf/10.1007/s12185-026-04245-8.pdf",
  "pmcid": "PMC13719731",
  "pmid": "42412349",
  "published": "2026-07-07",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/a3wfvvm22kgjz.ris",
  "sources": [
    {
      "first_seen": "2026-11-02T12:23:38Z",
      "native_id": "PMC13719731",
      "source": "pmc",
      "url": "https://doi.org/10.1007/s12185-026-04245-8"
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  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
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  ],
  "title": "Allogeneic hematopoietic cell transplantation with reduced-toxicity conditioning for X-linked hyper-IgM syndrome",
  "title_text": "Allogeneic hematopoietic cell transplantation with reduced-toxicity conditioning for X-linked hyper-IgM syndrome",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:20:44Z",
  "url": "https://research.draconitic.com/paper/a3wfvvm22kgjz",
  "venue": "International Journal of Hematology",
  "versions": []
}