Osteopetrosis—More than only a disease of the bone
2009; Wiley; Volume: 84; Issue: 8 Linguagem: Inglês
10.1002/ajh.21454
ISSN1096-8652
Autores Tópico(s)Blood disorders and treatments
ResumoAmerican Journal of HematologyVolume 84, Issue 8 p. 469-470 CommentaryFree Access Osteopetrosis—More than only a disease of the bone† Anders Fasth, Corresponding Author Anders Fasth [email protected] Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden Division of Immunology, The Queen Silvia Children's Hospital, Gothenburg, Sweden Servicio de Inmunología y Reumatología Pediátrica, Hospital Nacional de Niños "Dr. Carlos Sáenz Herrera," San José, Costa RicaThe Queen Silvia Children's Hospital, Gothenburg SE-41685, SwedenSearch for more papers by this author Anders Fasth, Corresponding Author Anders Fasth [email protected] Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden Division of Immunology, The Queen Silvia Children's Hospital, Gothenburg, Sweden Servicio de Inmunología y Reumatología Pediátrica, Hospital Nacional de Niños "Dr. Carlos Sáenz Herrera," San José, Costa RicaThe Queen Silvia Children's Hospital, Gothenburg SE-41685, SwedenSearch for more papers by this author First published: 18 May 2009 https://doi.org/10.1002/ajh.21454Citations: 12 † Conflict of interest: Nothing to report. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Mazzolari E,Forino C,Razza A, et al.A single centre experience in 20 patients with infantile malignant osteopetrosis.Am J Hematol2009. 2Coccia PF,Krivit W,Cervenka J, et al.Successful bone-marrow transplantation for infantile malignant osteopetrosis.N Engl J Med1980; 302: 701–708. 3Fasth A,Porras A. Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation.Pediatr Transplant1999; 3(Suppl 1): 102–107. 4Gerritsen EJ,Vossen JM,Fasth A, et al.Bone marrow transplantation for autosomal recessive osteopetrosis.J Pediatr1994; 125: 896–902. 5Frattini A,Orchard PJ,Sobacchi C, et al.Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.Nat Genet2000; 25: 343–346. 6Kornak U,Schulz,Friedrich W, et al.Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopterosis.Human Mol Genet2000; 9: 2059–2063. 7Askemyr M,Fasth A,Richter A.Towards a better understanding and new therapeutics of osteopetrosis.Br J Haematol2008; 140: 597–609. 8Permaul P,Narla A,Hornick JL,Pai SY.Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: Case report and review of outcomes.Immunol Res, in press. DOI 10.1007/s12026-008-8085-2 9Sobacchi C,Frattini A,Orchard P, et al.The mutational spectrum of human malignant autosomal recessive osteopetrosis.Hum Mol Genet2001; 10: 1767–1773. 10Ohlsson A,Stark G,Sakati N. Marble brain disease: Recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families.Dev Med Child Neurol1980; 22: 72–84. 11Enell H,Pehrson M.Studies on osteopetrosis. I. Clinical report of three cases with genetic considerations.Acta Paediatr1958; 47: 279–287. 12Bulwin GC,Wälter S,Schlawinsky M, et al.HLA-DR alpha 2 mediates negative signaling via binding to Tirc7 leading to anti-inflammatory and apoptotic effects in lymphocytes in vitro and in vivo.PLoS ONE2008; 3: e1576. 13Driessen GJ,Gerritsen EJ,Fischer A, et al.Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: An EBMT report.Bone Marrow Transplant2003; 32: 657–663. 14Corbacioglu S,Hönig M,Lahr G, et al.Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide.Bone Marrow Transplant2006; 38: 547–553. 15Askmyr M,Holmberg J,Flores C, et al.Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis.Exp Hematol2009; 37: 302–308. 16Johansson M,De Vries TJ,Schoenmaker T, et al.Hematopoietic stem cell targeted neonatal gene therapy cures oc/oc mice from lethally progressive osteopetrosis.Blood2007; 109: 5178–5185. 17Steward CG,Blair A,Moppett J, et al.High peripheral blood progenitor cell counts enable autologous backup before stem cell transplantation for malignant infantile osteopetrosis.Biol Blood Marrow Transplant2005; 11: 115–121. Citing Literature Volume84, Issue8August 2009Pages 469-470 ReferencesRelatedInformation
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