PMID- 36875143 OWN - NLM STAT- MEDLINE DCOM- 20230307 LR - 20230307 IS - 1664-3224 (Electronic) IS - 1664-3224 (Linking) VI - 14 DP - 2023 TI - Case report: HLA-haploidentical HSCT rescued with donor lymphocytes infusions in a patient with X-linked chronic granulomatous disease. PG - 1042650 LID - 10.3389/fimmu.2023.1042650 [doi] LID - 1042650 AB - 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. CI - Copyright (c) 2023 Scheiermann, Kunkele, von Stackelberg, Eggert, Lang, Zirngibl, Martin, Schulte and von Bernuth. FAU - Scheiermann, Julia AU - Scheiermann J AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Center, Berlin, Germany. AD - Berlin Institute of Health at Charite - Universitatsmedizin Berlin, Berlin, Germany. FAU - Kunkele, Annette AU - Kunkele A AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Center, Berlin, Germany. AD - Berlin Institute of Health at Charite - Universitatsmedizin Berlin, Berlin, Germany. AD - German Cancer Consortium [Deutsches Konsortium fur Transnationale Krebsforschung (DKTK)], Berlin, Germany. AD - German Cancer Research Center [Deutsches Krebsforschungszentrum (DKFZ)], Heidelberg, Germany. FAU - von Stackelberg, Arend AU - von Stackelberg A AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Center, Berlin, Germany. FAU - Eggert, Angelika AU - Eggert A AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Center, Berlin, Germany. AD - Berlin Institute of Health at Charite - Universitatsmedizin Berlin, Berlin, Germany. AD - German Cancer Consortium [Deutsches Konsortium fur Transnationale Krebsforschung (DKTK)], Berlin, Germany. AD - German Cancer Research Center [Deutsches Krebsforschungszentrum (DKFZ)], Heidelberg, Germany. FAU - Lang, Peter AU - Lang P AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Center, Berlin, Germany. AD - Department of Pediatric Hematology and Oncology, University Hospital, Tubingen, Germany. FAU - Zirngibl, Felix AU - Zirngibl F AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Center, Berlin, Germany. FAU - Martin, Luise AU - Martin L AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, University Hospital Center, Berlin, Germany. FAU - Schulte, Johannes Hubertus AU - Schulte JH AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital Center, Berlin, Germany. AD - Berlin Institute of Health at Charite - Universitatsmedizin Berlin, Berlin, Germany. AD - German Cancer Consortium [Deutsches Konsortium fur Transnationale Krebsforschung (DKTK)], Berlin, Germany. AD - German Cancer Research Center [Deutsches Krebsforschungszentrum (DKFZ)], Heidelberg, Germany. FAU - von Bernuth, Horst AU - von Bernuth H AD - Berlin Institute of Health at Charite - Universitatsmedizin Berlin, Berlin, Germany. AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, University Hospital Center, Berlin, Germany. AD - Department of Immunology, Labor Berlin GmbH, Berlin, Germany. AD - Charite - Universitatsmedizin Berlin, Corporate Member of Freie Universitat Berlin, Humboldt-Universitat zu Berlin, and Berlin Institute of Health (BIH), Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany. LA - eng PT - Case Reports PT - Research Support, Non-U.S. Gov't DEP - 20230216 PL - Switzerland TA - Front Immunol JT - Frontiers in immunology JID - 101560960 RN - 0 (Histocompatibility Antigens) RN - 0 (Histocompatibility Antigens Class II) RN - 0 (HLA Antigens) SB - IM MH - Humans MH - Male MH - Infant MH - *Granulomatous Disease, Chronic MH - Histocompatibility Antigens MH - Histocompatibility Antigens Class II MH - HLA Antigens MH - *Hematopoietic Stem Cell Transplantation MH - Lymphocytes PMC - PMC9978143 OTO - NOTNLM OT - HLA-haploidentical hematopoietic stem cell transplantation OT - TCR alpha/beta+/CD19+ depleted peripheral blood HSCT OT - chronic granulomatous disease OT - donor lymphocyte infusion (DLI) OT - graft verses host disease COIS- Author HB was employed by Labor Berlin GmbH. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. EDAT- 2023/03/07 06:00 MHDA- 2023/03/08 06:00 PMCR- 2023/01/01 CRDT- 2023/03/06 04:05 PHST- 2022/09/12 00:00 [received] PHST- 2023/02/02 00:00 [accepted] PHST- 2023/03/06 04:05 [entrez] PHST- 2023/03/07 06:00 [pubmed] PHST- 2023/03/08 06:00 [medline] PHST- 2023/01/01 00:00 [pmc-release] AID - 10.3389/fimmu.2023.1042650 [doi] PST - epublish SO - Front Immunol. 2023 Feb 16;14:1042650. doi: 10.3389/fimmu.2023.1042650. eCollection 2023.