Osteopetrosis - More than only a disease of the bone

American Journal of Hematology

Volumn 84, Issue 8, 2009, Pages 469-470

  Fasth, Anders ^a,b,c  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c HOSPITAL NACIONAL DE NIÑOS   (Costa Rica)

Author keywords

[No Author keywords available]

Indexed keywords

ALBERS SCHOENBERG DISEASE; CELL FUNCTION; CLINICAL FEATURE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNOGLOBULIN DEFICIENCY; INFANT DISEASE; NONHUMAN; NOTE; OSTEOCLAST; PRIORITY JOURNAL; PULMONARY HYPERTENSION; TREATMENT OUTCOME;

AGAMMAGLOBULINEMIA; CHLORIDE CHANNELS; DISEASE-FREE SURVIVAL; FEMALE; FOLLOW-UP STUDIES; GENETIC DISEASES, INBORN; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; HYPERTENSION, PULMONARY; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; OSTEOPETROSIS; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B; RETROSPECTIVE STUDIES; SURVIVAL RATE; TRANSPLANTATION, HOMOLOGOUS; UBIQUITIN-PROTEIN LIGASES; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 67749116464     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21454     Document Type: Note

References (17)

1. Mazzolari E, Forino C, Razza A, et al. A single centre experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol 2009.
2. Coccia PF, Krivit W, Cervenka J,et al. Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980;302:701-708. (Pubitemid 10132096)
3. Fasth A, Porras A. Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999;3(Suppl 1):102-107.
4. Gerritsen EJ, Vossen JM, Fasth A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. J Pediatr 1994;125:896-902. (Pubitemid 24379122)
5. Frattini 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 Genet 2000;25:343-346. (Pubitemid 30437326)
6. Kornak U, Schulz, Friedrich W, et al. Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopterosis. Human Mol Genet 2000;9:2059-2063. (Pubitemid 30642671)
7. Askemyr M, Fasth A, Richter A. Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol 2008;140:597-609. (Pubitemid 351300923)
8. Permaul 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
9. Sobacchi C, Frattini A, Orchard P, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001;10:1767-1773. (Pubitemid 32899094)
10. Ohlsson A, Stark G, Sakati N. Marble brain disease: Recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. Dev Med Child Neurol 1980;22:72-84. (Pubitemid 10164083)
11. Enell H, Pehrson M. Studies on osteopetrosis. I. Clinical report of three cases with genetic considerations. Acta Paediatr 1958;47:279-287.
12. Bulwin 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 ONE 2008;3:e1576.
13. Driessen GJ, Gerritsen EJ, Fischer A, et al. Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: An EBMT report. Bone Marrow Transplant 2003;32:657-663. (Pubitemid 37258621)
14. Corbacioglu 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 Transplant 2006;38:547-553. (Pubitemid 44509547)
15. Askmyr 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 Hematol 2009;37:302-308.
16. Johansson M, De Vries TJ, Schoenmaker T, et al. Hematopoietic stem cell targeted neonatal gene therapy cures oc/oc mice from lethally progressive osteopetrosis. Blood 2007;109:5178-5185.
17. Steward 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 Transplant 2005;11:115-121. (Pubitemid 40186208)