{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T19:42:02Z","timestamp":1787859722961,"version":"build-2784847793"},"reference-count":15,"publisher":"American Society of Hematology","issue":"6","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,3,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteopetrosis (OP) is a rare disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment available in the infantile \u201cmalignant\u201d form of OP. Improved clinical and genetic diagnosis of OP has seen the emergence of a cohort of patients with less severe and heterogeneous clinical presentations. This intermediate form of OP does not call for urgent intervention, but patients accumulate debilitating skeletal complications over years and decades, which are severe enough to require curative treatment and may also require intermittent transfusion of blood products. Here we present data from 7 patients with intermediate OP caused by mutations in TCIRG1 (n = 2), CLCN7 (n = 2), RANK (n = 1), SNX10 (n = 1), and CA2 (n = 1), who were transplanted between the ages of 5 to 30 years (mean, 15; median, 12). Donors were matched siblings or family (n = 4), matched unrelated (n = 2), or HLA haploidentical family donors (n = 1). Conditioning was fludarabine and treosulfan based. All 6 patients transplanted from matched donors are currently alive with a follow-up period between 1 and 8 years at time of publication (median, 4 years) and have demonstrated a significant improvement in symptoms and quality of life. Patients with intermediate OP should be considered for HSCT.<\/jats:p>","DOI":"10.1182\/bloodadvances.2018025890","type":"journal-article","created":{"date-parts":[[2019,3,18]],"date-time":"2019-03-18T16:55:28Z","timestamp":1552928128000},"page":"862-868","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":40,"title":["Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years"],"prefix":"10.1182","volume":"3","author":[{"given":"Polina","family":"Stepensky","sequence":"first","affiliation":[{"name":"Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigal","family":"Grisariu","sequence":"additional","affiliation":[{"name":"Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Batia","family":"Avni","sequence":"additional","affiliation":[{"name":"Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Zaidman","sequence":"additional","affiliation":[{"name":"Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bella","family":"Shadur","sequence":"additional","affiliation":[{"name":"Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel;"},{"name":"Garvan Institute of Medical Research, Darlinghurst, NSW, Australia;"},{"name":"Graduate Research School, University of New South Wales, Sydney, NSW, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehtap","family":"Sirin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manfred","family":"Hoenig","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharina","family":"Schuetz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Furlan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meinrad","family":"Beer","sequence":"additional","affiliation":[{"name":"Department of Radiology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"von Harsdorf","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III, University Medical Center Ulm, Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald","family":"Bunjes","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III, University Medical Center Ulm, Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus-Michael","family":"Debatin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7798-7996","authenticated-orcid":false,"given":"Ansgar S.","family":"Schulz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","published-online":{"date-parts":[[2019,3,18]]},"reference":[{"issue":"9","key":"2020021109185919600_B1","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2013.137","article-title":"Osteopetrosis: genetics, treatment and new insights into osteoclast function","volume":"9","author":"Sobacchi","year":"2013","journal-title":"Nat Rev Endocrinol"},{"key":"2020021109185919600_B2","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1034\/j.1399-3046.1999.00063.x","article-title":"Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation","volume":"3","author":"Fasth","year":"1999","journal-title":"Pediatr Transplant"},{"issue":"5","key":"2020021109185919600_B3","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1038\/ejhg.2008.234","article-title":"Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect","volume":"17","author":"Bliznetz","year":"2009","journal-title":"Eur J Hum Genet"},{"issue":"27","key":"2020021109185919600_B4","doi-asserted-by":"crossref","first-page":"2839","DOI":"10.1056\/NEJMra040952","article-title":"Osteopetrosis","volume":"351","author":"Tolar","year":"2004","journal-title":"N Engl J Med"},{"key":"2020021109185919600_B5","author":"Whyte","year":"1999"},{"issue":"2","key":"2020021109185919600_B6","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1182\/blood-2015-01-625541","article-title":"Hematopoietic stem cell transplantation for infantile osteopetrosis","volume":"126","author":"Orchard","year":"2015","journal-title":"Blood"},{"issue":"3","key":"2020021109185919600_B7","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/pbc.25801","article-title":"Improved outcomes of hematopoietic stem cell transplantation in patients with infantile malignant osteopetrosis using fludarabine-based conditioning","volume":"63","author":"Natsheh","year":"2016","journal-title":"Pediatr Blood Cancer"},{"issue":"4","key":"2020021109185919600_B8","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1111\/petr.12476","article-title":"Non-total body irradiation myeloablative conditioning with intravenous busulfan and cyclophosphamide in hematopoietic stem cell transplantation for malignant infantile osteopetrosis","volume":"19","author":"Behfar","year":"2015","journal-title":"Pediatr 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