{
  "abstract": "A girl with very early-onset inflammatory bowel disease due to a loss-of-function IL10RA mutation (c.611G>A p.Trp204*) presented in infancy with severe Crohn’s disease-like colitis requiring colectomy. Two matched-sibling allogeneic haematopoietic stem cell transplantations using treosulfan-based conditioning engrafted transiently but ultimately failed with autologous recovery and immune cytopenias. A third transplant from the same donor with busulfan/fludarabine/melphalan plus serotherapy and peripheral blood stem cells achieved durable engraftment. Acute skin and gut graft-versus-host disease responded to corticosteroids and etanercept. On long-term follow-up, the patient remained off immunosuppression with stable donor chimerism, normal immunoglobulins, nutritional catch-up (weight), preserved puberty and regular menses though short stature persisted.",
  "authors": [
    {
      "affiliations": [
        "Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wrocław, Poland"
      ],
      "name": "Katarzyna Gul"
    },
    {
      "affiliations": [
        "Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland"
      ],
      "name": "Katarzyna Drabko"
    },
    {
      "affiliations": [
        "Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wrocław, Poland"
      ],
      "name": "Marek Ussowicz"
    }
  ],
  "title": "Third salvage haematopoietic stem cell transplantation in a child with very early-onset IBD due to interleukin-10 receptor deficiency",
  "uid": "59695b70-416c-5327-8d9f-185874809a57"
}