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@ARTICLE{Scheiermann:274140,
      author       = {J. Scheiermann and A. Künkele$^*$ and A. von Stackelberg
                      and A. Eggert$^*$ and P. Lang and F. Zirngibl and L. Martin
                      and J. Schulte$^*$ and H. von Bernuth},
      title        = {{C}ase report: {HLA}-haploidentical {HSCT} rescued with
                      donor lymphocytes infusions in a patient with {X}-linked
                      chronic granulomatous disease.},
      journal      = {Frontiers in immunology},
      volume       = {14},
      issn         = {1664-3224},
      address      = {Lausanne},
      publisher    = {Frontiers Media},
      reportid     = {DKFZ-2023-00450},
      pages        = {1042650},
      year         = {2023},
      abstract     = {Chronic granulomatous disease is an inborn error of
                      immunity due to disrupted function of the nicotinamide
                      adenine dinucleotide phosphate (NADPH) oxidase complex. This
                      results in impaired respiratory burst of phagocytes and
                      insufficient killing of bacteria and fungi. Patients with
                      chronic granulomatous disease are at increased risk for
                      infections, autoinflammation and autoimmunity. Allogeneic
                      hematopoietic stem cell transplantation (HSCT) is the only
                      widely available curative therapy. While HSCT from human
                      leukocyte antigen (HLA) matched siblings or unrelated donors
                      are standard of care, transplantation from
                      HLA-haploidentical donors or gene therapy are considered
                      alternative options. We describe a 14-month-old male with
                      X-linked chronic granulomatous disease who underwent a
                      paternal HLA-haploidentical HSCT using T-cell receptor (TCR)
                      alpha/beta+/CD19+ depleted peripheral blood stem cells
                      followed by mycophenolate graft versus host disease
                      prophylaxis. Decreasing donor fraction of CD3+ T cells was
                      overcome by repeated infusions of donor lymphocytes from the
                      paternal HLA-haploidentical donor. The patient achieved
                      normalized respiratory burst and full donor chimerism. He
                      remained disease-free off any antibiotic prophylaxis for
                      more than three years after HLA-haploidentical HSCT. In
                      patients with x-linked chronic granulomatous disease without
                      a matched donor paternal HLA-haploidentical HSCT is a
                      treatment option worth to consider. Administration of donor
                      lymphocytes can prevent imminent graft failure.},
      keywords     = {HLA-haploidentical hematopoietic stem cell transplantation
                      (Other) / TCR alpha/beta+/CD19+ depleted peripheral blood
                      HSCT (Other) / chronic granulomatous disease (Other) / donor
                      lymphocyte infusion (DLI) (Other) / graft verses host
                      disease (Other)},
      cin          = {BE01},
      ddc          = {610},
      cid          = {I:(DE-He78)BE01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36875143},
      pmc          = {pmc:PMC9978143},
      doi          = {10.3389/fimmu.2023.1042650},
      url          = {https://inrepo02.dkfz.de/record/274140},
}