{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T01:12:14Z","timestamp":1784941934215,"version":"3.55.0"},"reference-count":59,"publisher":"American Society of Hematology","issue":"2","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1,8]]},"abstract":"<jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>Purine nucleoside phosphorylase (PNP) deficiency causes inadequate purine metabolite detoxification, which leads to combined immunodeficiency and variable neurologic symptoms. Hematopoietic stem cell transplantation (HSCT) cures the immunodeficiency, but large studies on the long-term outcomes are lacking. In a retrospective study of the European Society for Blood and Marrow Transplantation, we investigated 46 patients with PNP deficiency from 21 centers. We analyzed the presenting clinical signs and outcomes after HSCT. Cognition (0-3), hearing (0-3), interaction (0-4), movement (0-4), and occupation (0-3) (CHIMO) were scored at the last follow-up (FU) visit (no impairment, 17; mild, 15-16; moderate, 12-14; and severe impairment, &amp;lt;12). The median age at initial presentation was 7.5 (1-48) months. The patients presented with infections (41%), neurological dysfunction (39%), both (15%), or autoimmune disease (5%). At the time of HSCT (median age, 26 [2-192] months), neurological abnormalities were observed in 88% of patients. After a median FU of 7.9 (1.0-22.3) years, 40 patients were alive with a 3-year overall survival (OS)\/event-free survival (EFS) probabilities of 86% (confidence interval [CI], 77%-97%)\/75% (CI, 64%-89%), respectively. High-level (&amp;gt;50%-100%)\/low-level donor chimerism (11%-50%) was observed in 85%\/15% of patients, respectively, leading to resolution of T lymphopenia. The median overall CHIMO score was 14 (6-17), while the median scores for each component were 3 (0-3), 3 (1-3), 4 (1-4), 3 (1-4), and 2 (0-3), respectively. Patients who underwent HSCT before 24 months after the initial presentation demonstrated superior OS (P = .049). Neurological symptoms that occurred before 11 months of age were associated with reduced OS (P = .027). While the overall results were satisfactory, earlier diagnosis could further improve outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1182\/blood.2025029640","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T21:55:46Z","timestamp":1758578146000},"page":"138-163","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":2,"title":["Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study"],"prefix":"10.1182","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1327-5199","authenticated-orcid":false,"given":"Uli S.","family":"Herrmann","sequence":"first","affiliation":[{"name":"1Department of Stem Cell Transplantation, University Children's Hospital, Zurich, Switzerland"},{"name":"2Division of Pediatric Hematology and Oncology, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland"},{"name":"3Department for BioMedical Research, University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Felber","sequence":"additional","affiliation":[{"name":"1Department of Stem Cell Transplantation, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6803-7385","authenticated-orcid":false,"given":"Austen","family":"Worth","sequence":"additional","affiliation":[{"name":"4Department of Immunology and Gene Therapy, Great Ormond Street Hospital, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2668-0441","authenticated-orcid":false,"given":"Sule","family":"Haskologlu","sequence":"additional","affiliation":[{"name":"5Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7869-4941","authenticated-orcid":false,"given":"Figen","family":"Dogu","sequence":"additional","affiliation":[{"name":"5Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor A.","family":"Lewis","sequence":"additional","affiliation":[{"name":"6Department of Pediatric Oncology and Blood and Marrow Transplant, Alberta Children\u2019s Hospital, University of Calgary Cumming School of Medicine, Calgary, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6086-130X","authenticated-orcid":false,"given":"Brigitte","family":"Strahm","sequence":"additional","affiliation":[{"name":"7Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Children\u2019s Hospital, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1188-393X","authenticated-orcid":false,"given":"Andreas","family":"Groll","sequence":"additional","affiliation":[{"name":"8Department of Hematology\/Oncology\/Bone Marrow Transplantation, University Children's Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Gennery","sequence":"additional","affiliation":[{"name":"9Institute of Cellular Medicine, Child Health, University of Newcastle upon Tyne, Newcastle Upon Tyne, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9644-2003","authenticated-orcid":false,"given":"Fabian","family":"Hauck","sequence":"additional","affiliation":[{"name":"10Department of Pediatric Hematology and Oncology, Dr. von Hauner Children\u2019s University Hospital, Ludwig Maximilian University, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6046-8428","authenticated-orcid":false,"given":"Robert","family":"Wynn","sequence":"additional","affiliation":[{"name":"11Department of Blood and Marrow Transplant, Royal Manchester Children's Hospital, Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Coussons","sequence":"additional","affiliation":[{"name":"11Department of Blood and Marrow Transplant, Royal Manchester Children's Hospital, Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1214-0302","authenticated-orcid":false,"given":"Isabelle","family":"Meyts","sequence":"additional","affiliation":[{"name":"12Department of Microbiology, Immunology and Transplantation, Katholieke Universiteit, Leuven, Belgium"},{"name":"13Department of Pediatrics, University Hospital, Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3984-5620","authenticated-orcid":false,"given":"Caroline","family":"Lindemans","sequence":"additional","affiliation":[{"name":"14Pediatric Blood and Marrow Transplantation Program, Princess M\u00e1xima Centre for Pediatric Oncology, Utrecht, The Netherlands"},{"name":"15Department of Pediatrics, University Medical Centre, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Bordon","sequence":"additional","affiliation":[{"name":"16Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8151-1539","authenticated-orcid":false,"given":"Robbert G. M.","family":"Bredius","sequence":"additional","affiliation":[{"name":"17Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rn-Sven","family":"K\u00fchl","sequence":"additional","affiliation":[{"name":"18Department of Pediatric Hematology\/Oncology\/Hemostaseology, Leipzig University Hospital, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam","family":"V\u00f6ller","sequence":"additional","affiliation":[{"name":"19Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charit\u00e9-Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin, Humboldt-Universit\u00e4t zu Berlin, and Berlin Institute of Health, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1764-4841","authenticated-orcid":false,"given":"Felix","family":"Zirngibl","sequence":"additional","affiliation":[{"name":"20Department of Pediatric Oncology and Hematology, Charit\u00e9-Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Zaidman","sequence":"additional","affiliation":[{"name":"21Department of Pediatric Hematology Oncology, Hadassah Medical Center, Jerusalem, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2354-2588","authenticated-orcid":false,"given":"Alexandra","family":"Laberko","sequence":"additional","affiliation":[{"name":"22Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Zeilhofer","sequence":"additional","affiliation":[{"name":"1Department of Stem Cell Transplantation, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4618-3319","authenticated-orcid":false,"given":"Mathias","family":"Hauri-Hohl","sequence":"additional","affiliation":[{"name":"1Department of Stem Cell Transplantation, University Children's Hospital, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjan","family":"Lankester","sequence":"additional","affiliation":[{"name":"23Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1145-0843","authenticated-orcid":false,"given":"Aydan","family":"Ikinciogullari","sequence":"additional","affiliation":[{"name":"5Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory M. 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