Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor

Pediatric Transplantation

Volumn 9, Issue 1, 2005, Pages 101-103

  Muraoka, Kenji ^a   Ishii, Eiichi ^a,c   Ihara, Kenji ^a   Imayoshi, Miyoko ^a   Miyazaki, Sumio ^a   Hara, Toshiro ^b   Hamasaki, Yuhei ^a  

^a SAGA UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c SAGA UNIVERSITY   (Japan)

Author keywords

Amegakaryocytic thrombocytopenia; c mpl gene; Stem cell transplantation

Indexed keywords

BUSULFAN; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; FLUDARABINE; GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; IMMUNOGLOBULIN; METHOTREXATE; STEROID;

ALLOGENEIC STEM CELL TRANSPLANTATION; ARTICLE; BONE MARROW; BONE MARROW TRANSPLANTATION; C MPL GENE; CASE REPORT; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; FEMALE; GENE; GENE MUTATION; HEMATOPOIETIC STEM CELL; HETEROZYGOTE; HUMAN; NEWBORN; THROMBOCYTOPENIA;

BONE MARROW PURGING; BONE MARROW TRANSPLANTATION; CHILD; FEMALE; HETEROZYGOTE; HUMANS; IMMUNOSUPPRESSIVE AGENTS; MEGAKARYOCYTES; POINT MUTATION; THROMBOCYTOPENIA; THROMBOPOIETIN; VIDARABINE;

EID: 13744262063     PISSN: 13973142     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-3046.2005.00247.x     Document Type: Article

References (12)

1. ALTER BP. Inherited bone marrow failure syndromes. In: NATHAN DG, ORKINS SH, eds. Hematology in Infancy and Childhood. Philadelphia, PA: Sanders, 1998: pp. 280-365.
2. IHARA K, ISHII E, EGUCHI M, et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 1999: 96: 3132-3136.
3. VAN DEN OUDENRIJN S, BRUIN M, FOLMAN CC, et al. Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. Br J Haematol 2000: 110: 441-448.
4. BALLMAIER M, GERMESHAUSEN M, SCHULZE H, et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 2001: 97: 139-146.
5. HENTER JI, WINIARSKI J, LJUNGMAN P, RINGDEN O, OST A. Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. Bone Marrow Transplant 1995: 15: 799-801.
6. MACMILLAN ML, DAVIES SM, WAGNER JE, RAMSAY NKC. Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopenia. Bone Marrow Transplant 1998: 21: 735-737.
7. LACKNER A, BASU O, BIERINGS M, et al. Haematopoetic stem cell transplantation for amegakaryocytic thrombocytopenia. Br J Haematol 1998: 21: 735-737.
8. GUINAN EC, LEE YS, LOPEZ KD, et al. Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. Blood 1993: 81: 1691-1698.
9. YESILIPEK MA, HAZAR V, KUPESIZ A, YEGIN O. Peripheral stem cell transplantation in a child with amegakaryocytic thrombocytopenia. Bone Marrow Transplant 2000: 26: 571-572.
10. CHAN KW, LI CK, WORTH LL, et al. A fludarabine-based conditioning regimen for severe aplastic anemia. Bone Marrow Transplant 2001: 27: 125-128.
11. MCCLOY M, ALMEIDA A, DALY P, VULLIAMY T, ROBERTS IAG, DOKAL I. Fludarabine-based stem cell transplantation protocol for Fancini's anaemia in myelodysplastic transformation. Br J Haematol 2001: 112: 427-429.
12. ALEXANDER WS, ROBERTS AW, NICOLA NA, LI R, METCALF D. Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietin receptor c-Mpl. Blood 1996: 87: 2162-2170.