Abstract
Our understanding of the pathophysiology of hematopoietic failure associated syndromes led to the developmental of potentially curative procedures for the treatment of many diseases including Severe aplastic anemia, Fanconi’s anemia, Primary immunodeficiency, Osteopetrosis, and Metabolic diseases.
Although the number of patients that were transplanted for bone marrow deficiency diseases is relatively low as compared to patients with hematological malignancies, the impact on the knowledge of hematopoiesis and transplantation biology is tremendous. Moreover, the patient’s average young age suffering from these diseases further encourage searching for curative approaches.
Lucking a fully MHC matched donor, remained a significant obstacle in stem cell transplantation for non-malignant hematological disorders. Lessons from attempts to cure aplasic anemia with bone marrow transplantation guided us to the improvement of pretransplant conditioning regimens and prevention of graft versus host reactions after transplantation.
Furthermore, in recent years optimization of disease specific protocol have been successfully designed and clinically applied.
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References
Sanders JE, Whitehead J, Storb R, et al (1986) Bone marrow transplantation experience for children with aplastic anemia. Pediatrics 77:179
Locasciulli A, Van’t Veer L, Bacigalupo A, et al (1990) Treatment with bone marrow transplantation or immunosuppression of childhood acquired severe aplastic anemia: a report from the EBMT SAA working party. Bone Marrow Transplant 6:211
Anasetti C, Doney KC, Storb R, et al (1986) Marrow transplantation for severe aplastic anemia. Long term outcome in fifty “untransfused” patients. Ann Intern Med 104:461
Storb R, Doney KC, Thomas ED, et al (1982) Marrow transplantation with or without donor buffy coat cells for 65 transfused aplastic anemia patients. Blood 59:236
Storb R, Sanders JE, Pepe M, et al (1991) Graft-versus host disease prophylaxis with methotrexate/cyclophosphamide in children with severe aplastic anemia treated with cyclophosphamide and HLA-identical marrow grafts. Blood 78:1144
May WS, Sensenbrenner LL, Burns WH, et al (1993) BMT for severe aplastic anemia using cyclosporine. Bone Marrow Transplant 11:459
Feig SA, Champlin R, Arenson E, et al (1983) Improved survival following bone marrow transplantation for aplastic anemia. Br J hematol 54:509
Chaplin RE, Ho WG, Nimer SD, et al (1990) Bone marrow transplantation for severe aplastic anemia. Effect of a preparative regimen of cyclophosphamide-low dose total lymphoid irradiation and posttransplant cyclosporine-methotrexate therapy. Transplantation 49:720
Castro-Malaspina H, Childs B, Laver J, et al (1994) Hyperfractionated total lymphoid irradiation and cyclophosphamide for preparation of previously transfused patients undergoing HLA- identical marrow transplantation for severe aplastic anemia. Int J Radiat Oncol Biol Phys 29:847
Deeg HJ, Leisenring W, Storb R, et al (1998) Long term outcome after marrow transplantation for severe aplastic anemia. Blood 91:3637
Sanders JE, Team at SMT (1991) The impact of marrow transplant preparative regimens on subsequent growth and development. Semin Hematol 28:244
Clement-de Boers A, Oostdijk W, Van Weel-Sipman MH, et al (1996) Final height and hormonal function after bone marrow transplantation in children. J Pediatr 129:544
Horstmann M, Stockschlader M, Kruger W, et al (1995) Cyclophosphamide/antithymocyte globulin conditioning of patients with severe aplastic anemia for marrow transplantation from HLA-matched siblings: preliminary results. Ann Hematol 71:77
Storb R, Etzioni R, Anasetti C, et al (1994) Cyclophosphamide combined with antithymocyte globulin in preparation for allogeneic marrow transplants in patients with aplastic anemia. Blood 84:941
Slavin S, Nagler A, Naprastek E, et al (1998) Nonmyeloablative stem cell transplantation and cell therapy as an alternative to conventional bone marrow transplantation with lethal cytoreduction for the treatment of malignant and nonmalignant hematologic diseases. Blood 91:756
Hows JM (1991) Severe aplastic anemia: the patient without an HLA-identical sibling. Br J Haematol 77:1
D’Andrea AD, Grompe M (1997) Molecular biology of Fanconi anemia: implications for diagnosis and therapy. Blood 90:1725
Young NS, Alter BP (1994) Clinical features of Fanconi’s anemia. In: Young NS, Alter BP (eds) Aplastic anemia acquired and inherited. Saunders, Philadelphia, pp 275–309
Butturini A, Gale RP, Verlander PC, et al (1994) Hematologic abnormalities in Fanconi anemia: an international Fanconi anemia registry study. Blood 84:1650
Guardiola P, Socie G, Pasquini R, et al (1998) Allogeneic stem cell transplantation for Fanconi anaemia. Severe Aplastic Anaemia Working Party of the EBMT and EUFAR. European Group for Blood and Marrow Transplantation. Bone Marrow Transplant Suppl 2:S24
Gluckman E, Devergie A, Schaison G, et al (1980) Bone marrow transplantation in Fanconi anaemia. Br J Haematol 45:557
Socie G, Gluckman E, Raynal B, et al (1993) Bone marrow transplantation for Fanconi anemia using low-dose cyclophosphamide/thoracoabdominal irradiation as conditioning regimen: chimerism study by the polymerase chain reaction. Blood 82:2249
Kapelushnik J, Or R, Slavin S, et al (1997) A fludarabine-based protocol for bone marrow transplantation in Fanconi’s anemia. Bone Marrow Transplant 20:1109
O’Reilly RJ, Dupont B, Pahwa S, et al (1997) Reconstitution in severe combined immunodeficiency by transplantation of marrow from an unrelated donor. N Engl J Med 297:1311
Parkman R (1990) The biology of bone marrow transplantation for severe combined immune deficiency. Adv Immunol 49:381
Buckley RH, Schiff SE, Schiff RI, et al (1999) Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 340:508
Fischer A, Griscelli C, Friedrich W, et al (1986) Bone marrow transplantation for immunodeficiencies and osteopetrosis: European Survey, 1968–1985. Lancet II:1080
Bach FH, Albertini RJ, Joo P, et al (1968) Bone marrow transplantation in a patient with the Wiskott-Aldrich syndrome. Lancet II:1364
Parkman R, Rappeport J, Geha R, et al (1978) Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone marrow transplantation. N Engl J Med 198:921
Ozsahin H, Le Deist F, Benkerrou M, et al (1996) Bone marrow transplantation in 26 patients with Wiskott-Aldrich syndrome for a single center. J Pediatr 129:238
Sly W (1989) Carbonic anhydrase deficiency syndrome: osteopetrosis with renal tubular acidosis and cerebral calcifications. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 2857–2866
Helfrich M, Aronson D, Everts V, et al (1991) Morphologic features of bone in human osteopetrosis. Bone 12:411
Van Hul W, Bollerslev J, Gram J, et al (1997) Localization of a gene for autosomal dominant osteopetrosis (Albers-Schonberg disease) to chromosome 1p2. Am J Hum Genet 61:363
Seiff CA, Chessels JM, Levinsky R (1983) Allogenic bone-marrow transplantation in infantile malignant osteopetrosis. Lancet I:437
Gerritsen EJ, Vossen JM, Loo IH, et al (1994) Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 93:247
Horton WA, Schimk RN, Lyama T (1980) Osteopetrosis: further heterogeneity. J Pediatr 97:580
Bollerslev J (1989) Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 10:45
Reference deleted
Heaney C, Shalev H, Elbedour K, et al (1998) Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Hum Mol Genet 7:1407
Abinun M, Newson T, Rowe PW, et al (1990) Importance of neurological assessment before bone marrow transplantation for osteopetrosis. Arch Dis Child 80:273
Ruben JB, Morris RJ, Judisch GF (1990) Chorioretinal degeneration in infantile malignant osteopetrosis. Am J Ophthalmol 110:1
Al-Mefty O, Fox JL, Al-Rodhan N, et al (1988) Optic nerve decompression in osteopetrosis. J Neurosurg 68:80
Eapen M, Davies SM, Ramsay NKC, et al (1998) Hematopoietic stem cell transplantation for infantile osteopetrosis. Bone Marrow Transplant 22:941
Coccia PF, Krivit W, Cervenka J, et al (1980) Successful bone marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 302:701
Key L, Carnes D, Cole S, et al (1984) Treatment of congenital osteopetrosis with high-dose calcitrol. N Engl J Med 310:409
Aarskog D, Asknes L, Haneberg B, et al (1979) Acute response of parathyroid hormone in congenital osteopetrosis. Acta Paediatr Scand Suppl 277:75
Key LL, Ries WL, Rodriguiz RM, et al (1992) Recombinant human interferon gamma therapy for osteopetrosis. J Pediatr 121:119
Li YP, Chen W, Liang Y, et al (1999) Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat Genet 23:447
Horwitz EM, Gordon PL, Koo WK, et al (2002) Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: implications for cell therapy of bone. Proc Natl Acad Sci USA 99:8932
Hobbs JR, Hugh-Jones K, Barrett AJ, et al (1981) Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet II:709
Peters C, Balthazor M, Shapiro EG, et al (1996) Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 87:4894
Krivit W, Lockman LA, Watkins PA, et al (1995) The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inherit Metab Dis 18:398
Hoogerbrugge PM, Brouwer OF, Bordigoni P, et al (1995) Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet 345:1398
Vellodi A, Young EP, Cooper A, et al (1997) Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child 76:92
McKinnis EJ, Sulzbacher S, Rutledge JC, et al (1996) Bone marrow transplantation in Hunter syndrome. J Pediatr 129:145
Malm G, Ringden O, Winiarski J, et al (1996) Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation. Bone Marrow Transplant 17:1003
Vellodi A, Cragg H, Winchester B, et al (1995) Allogeneic bone marrow transplantation for fucosidosis. Bone Marrow Transplant 15:153
Ringden O, Groth CG, Erikson A, et al (1995) Ten years’ experience of bone marrow transplantation for Gaucher disease. Transplantation 59:864
Krivit W, Peters C, Shapiro EG (1999) Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 12:167
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Or, R., Aker, M., Shapira, M.Y. et al. Allogeneic stem cell transplantation for the treatment of diseases associated with a deficiency in bone marrow products. Springer Semin Immun 26, 133–142 (2004). https://doi.org/10.1007/s00281-004-0169-z
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DOI: https://doi.org/10.1007/s00281-004-0169-z