Hematopoietic stem cell transplantation for infantile osteopetrosis.


:Infantile osteopetrosis is a lethal disorder resulting from a severe defect in the ability of osteoclasts to resorb bone. The only therapy shown to be capable of providing lasting benefit is allogeneic hematopoietic stem cell transplantation (HCT). We report the outcome of 10 patients with infantile malignant osteopetrosis treated with HCT from an HLA A, B, DRB1 matched (n=6) or A or B locus mismatched (n=4) family member or unrelated donor at the University of Minnesota between 1978 and 1997. Eight of 10 patients achieved primary engraftment; secondary graft failure was seen in two patients. Five of 10 patients survive; three with full or partial donor chimerism and two with autologous hematological recovery. Transient or partial donor chimerism can be sufficient to correct the hematological manifestations of osteopetrosis. We recommend early referral for consideration of HCT with a related or unrelated donor as neurosensory manifestations of osteopetrosis are generally not reversible. Donor engraftment may be easier to achieve early in the course of the disease.


Bone Marrow Transplant


Eapen M,Davies SM,Ramsay NK,Orchard PJ




Has Abstract


1998-11-01 00:00:00












  • Toxoplasma retinitis/encephalitis 9 months after allogeneic bone marrow transplantation.

    abstract::In a 34-year-old patient toxoplasma retinitis/encephalitis developed 9 months after bone marrow transplantation. The BMT was complicated with a serious GVHD. Although she initially responded well to antibiotic therapy she died 2 years after BMT due to progressive infection. ...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Brinkman K,Debast S,Sauerwein R,Ooyman F,Hiel J,Raemaekers J

    更新日期:1998-03-01 00:00:00

  • What would Karl Landsteiner do? The ABO blood group and stem cell transplantation.

    abstract::ABO blood group antigens, of great importance in transplantation and transfusion, are present on virtually all cells, as well as in soluble form in plasma and body fluids. Naturally occurring plasma IgM and IgG antibodies against these antigens are ubiquitous. Nonetheless, the ABO blood group system is widely ignored ...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章,评审


    authors: Heal JM,Liesveld JL,Phillips GL,Blumberg N

    更新日期:2005-11-01 00:00:00

  • A comparison of serological, cellular and DNA-RFLP methods for HLA matching in the selection of related bone marrow donors.

    abstract::Serological, cellular and DNA-RFLP (restriction fragment length polymorphism) methods of determining HLA compatibility between 10 leukaemic patients and potential related bone marrow donors were systematically compared. DR beta/DQ alpha/DQ beta/DNA-RFLP typing of these families gave results in agreement with those obt...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Howell WM,Evans PR,Spellerberg MB,Wilson PJ,Smith JL

    更新日期:1989-01-01 00:00:00

  • Amiodarone and cyclophosphamide: potential for enhanced lung toxicity.

    abstract::Antineoplastic therapy can be associated with drug-induced lung toxicity. With the increasing use of amiodarone for cardiac dysrhythmias there is an increasing possibility of its combined use with chemotherapies for various malignancies. We report a patient on long-term amiodarone who developed biopsy-proven drug-indu...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Bhagat R,Sporn TA,Long GD,Folz RJ

    更新日期:2001-05-01 00:00:00

  • A dose escalation study of total body irradiation followed by high-dose etoposide and allogeneic blood stem cell transplantation for the treatment of advanced hematologic malignancies.

    abstract::Since approximately 30% of leukemia patients relapse after allogeneic BMT using total body irradiation (TBI)-based preparative regimens, treatment intensity may be suboptimal. The killing of leukemia cells is proportional to the radiation absorbed dose. We studied the feasibility and toxicity of escalating the doses o...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章,多中心研究


    authors: Sobecks RM,Daugherty CK,Hallahan DE,Laport GF,Wagner ND,Larson RA

    更新日期:2000-04-01 00:00:00

  • Inhaled corticosteroids stabilize constrictive bronchiolitis after hematopoietic stem cell transplantation.

    abstract::Post transplantation constrictive bronchiolitis (PTCB) is the most common pulmonary complication among long-term survivors of allogeneic hematopoietic stem cell transplantation (HSCT). It is a late manifestation of GVHD. Its treatment with high-dose systemic corticosteroids and other immunosuppressive regimens is asso...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Bashoura L,Gupta S,Jain A,Couriel DR,Komanduri KV,Eapen GA,Safdar A,Broglio KR,Adachi R,Dickey BF

    更新日期:2008-01-01 00:00:00

  • Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease).

    abstract::Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragili...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Zix-Kieffer I,Langer B,Eyer D,Acar G,Racadot E,Schlaeder G,Oberlin F,Lutz P

    更新日期:1996-07-01 00:00:00

  • Disseminated fungal infection and early onset microangiopathy after allogeneic bone marrow transplantation.

    abstract::We report a patient who developed early onset microangiopathic hemolytic anemia (MAHA) and thrombocytopenia after allogeneic bone marrow transplantation (BMT). The clinical features and laboratory findings were not consistent with cyclosporin toxicity, graft-versus-host disease or cytomegalovirus infection as causativ...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Grigg A,Clouston D

    更新日期:1995-05-01 00:00:00

  • Efficacy of prophylactic transfusions using single donor apheresis platelets versus pooled platelet concentrates in AML/MDS patients receiving allogeneic hematopoietic stem cell transplantation.

    abstract::Superiority of single-donor apheresis platelets (SDAP) over pooled platelet concentrates (PPC) transfusions is largely assumed, but unproven. We hypothesized that prophylactic SDAP and PPC transfusions are clinically equivalent after allogeneic hematopoietic stem cell transplants (HSCT). We studied all transfusions ad...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Gurkan E,Patah PA,Saliba RM,Ramos CA,Anderson BS,Champlin R,de Lima M,Lichtiger B

    更新日期:2007-09-01 00:00:00

  • High-dose corticosteroid therapy for diffuse alveolar hemorrhage in allogeneic bone marrow stem cell transplant recipients.

    abstract::In a series of 74 patients with hematological malignancies undergoing allogeneic bone marrow or peri- pheral blood stem cell transplants from an HLA-identical sibling donor, four developed diffuse alveolar hemorrhage (DAH) between days 0 and 23 post transplant. Diagnosis was made by the radiographic finding of diffuse...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Raptis A,Mavroudis D,Suffredini A,Molldrem J,Rhee FV,Childs R,Phang S,Barrett A

    更新日期:1999-10-01 00:00:00

  • Early allogeneic transplantation favorably influences the outcome of adult patients suffering from acute myeloid leukemia. Société Française de Greffe de Moelle (SFGM).

    abstract::Allogeneic BMT for patients with acute myeloid leukemia (AML) is presently a reference therapy. The indications for this therapy mainly rely upon prognostic factors, and their importance is constantly reassessed. To examine the impact of time from diagnosis to transplant on survival and leukemia-free survival (LFS), w...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Jourdan E,Maraninchi D,Reiffers J,Gluckman E,Rio B,Jouet JP,Michallet M,Molina L,Archimbaud E,Harousseau JL,Ifrah N,Attal M,Guilhot F,Kuentz M,Guyotat D,Pico JL,Dauriac C,Legros M,Dreyfus F,Bordigoni P,Leblond V,

    更新日期:1997-05-01 00:00:00

  • Dual T-cell depletion with ATG and PTCy for peripheral blood reduced intensity conditioning allo-HSCT results in very low rates of GVHD.

    abstract::The efficacy of posttransplant cyclophosphamide (PTCy) and antithymocyte globulin (ATG) in controlling GVHD has been previously reported. We aim to study the safety and efficacy of the use of dual T-cell depletion with ATG and PTCy for peripheral blood reduced intensity conditioning regimen allo-HSCT in 270 patients w...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Salas MQ,Prem S,Atenafu EG,Datt Law A,Lam W,Al-Shaibani Z,Loach D,Kim DDH,Michelis FV,Lipton JH,Kumar R,Mattsson J,Viswabandya A

    更新日期:2020-09-01 00:00:00

  • In utero transplantation of stem cells in humans: immunological aspects and clinical follow-up of patients.

    abstract::Four human fetuses were treated by transplantation of human fetal liver stem cells. Two of them had severe immunodeficiency disease and the two other ones had thalassemia major. Three of these in utero transplants were followed by engraftment. The three patients are now born: the first one is now very healthy thanks t...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Touraine JL,Raudrant D,Rebaud A,Roncarolo MG,Laplace S,Gebuhrer L,Betuel H,Frappaz D,Freycon F,Zabot MT

    更新日期:1992-01-01 00:00:00

  • Tacrolimus pharmacokinetics in BMT patients.

    abstract::The pharmacokinetics of tacrolimus following its administration as monotherapy or in combination with corticosteroids or methotrexate to 31 BMT patients are presented. All patients received i.v. tacrolimus initially and were subsequently switched to p.o. dosing. Patients received methotrexate by i.v. bolus on post-tra...

    journal_title:Bone marrow transplantation

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Boswell GW,Bekersky I,Fay J,Wingard J,Antin J,Weisdorf D,Maher R,Fitzsimmons W,Nash R

    更新日期:1998-01-01 00:00:00

  • Prevention of acute GVHD by in vivo use of anti-interleukin-2 receptor monoclonal antibody (33B3.1): a feasibility trial in 15 patients.

    abstract::Results of allogeneic bone marrow transplantation (BMT) are still impaired due mainly to acute graft-versus-host disease (GVHD). Successful T cell depletion may abolish GVHD but causes increased rates of rejection and relapse. In vivo blocking of the CD25 receptor on T cells induces efficient and selective immunosuppr...

    journal_title:Bone marrow transplantation

    pub_type: 临床试验,杂志文章


    authors: Blaise D,Olive D,Hirn M,Viens P,Lafage M,Attal M,Stoppa AM,Gabert J,Gastaut JA,Camerlo J

    更新日期:1991-08-01 00:00:00

  • Extracorporeal photopheresis for the treatment of steroid refractory acute GVHD.

    abstract::Extracorporeal photopheresis (ECP) was given to 23 patients with steroid-refractory acute GVHD (aGVHD, grade II (n=10), III (n=7) or IV (n=6)). The median duration of ECP was 7 months (1-33) and the median number of ECP cycles in each patient was 10. Twelve patients (52%) had complete responses. Eleven patients (48%) ...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Perfetti P,Carlier P,Strada P,Gualandi F,Occhini D,Van Lint MT,Ibatici A,Lamparelli T,Bruno B,Raiola AM,Dominietto A,Di Grazia C,Bregante S,Zia S,Ferrari GM,Stura P,Pogliani E,Bacigalupo A

    更新日期:2008-11-01 00:00:00

  • TBI and melphalan followed by allogeneic hematopoietic SCT in children with advanced hematological malignancies.

    abstract::We evaluated the efficacy and safety of the conditioning regimen that consisted of TBI and melphalan (L-PAM), followed by hematopoietic SCT (HSCT) in 23 children with advanced hematological malignancies. The median age at HSCT was 9 (range, 2-15) years. The underlying diseases were ALL in 16 patients (5 in CR2, 3 in C...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Inagaki J,Nagatoshi Y,Sakiyama M,Nomura Y,Teranishi H,Sasaki T,Okamura J

    更新日期:2011-08-01 00:00:00

  • Evaluation of oxidative and antioxidative parameters in pediatric hematopoietic SCT patients.

    abstract::Conditioning regimens preceding hematopoietic SCT (HSCT) usually consist of high-dose chemotherapy. Chemotherapy and radiation therapy are associated with increased formation of free radicals and depletion of critical plasma and tissue antioxidants. Oxidative stress and antioxidant depletion have been described during...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Sabuncuoğlu S,Kuşkonmaz B,Uckun Çetinkaya D,Ozgüneş H

    更新日期:2012-05-01 00:00:00

  • Elevated soluble human leukocyte antigen G levels in patients after allogeneic stem cell transplantation are associated with less severe acute and chronic graft-versus-host disease.

    abstract::HLA-G is a non-classical class I molecule which induces tolerance in allogeneic situations by inhibition of cytotoxic NK and CD8 + T cells and by induction of regulatory T cells. Concordantly, in solid organ transplantation HLA-G is associated with a lower risk for acute and chronic rejection, whereas its role in allo...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Kordelas L,da Silva Nardi F,Wagner B,Ditschkowski M,Liebregts T,Lindemann M,Heinemann FM,Horn PA,Beelen DW,Rebmann V

    更新日期:2018-09-01 00:00:00

  • Risk factors for hepatic veno-occlusive disease: a retrospective unicentric study in 116 children autografted after a high-dose BU-thiotepa regimen.

    abstract::At our Institute, during the last decade, the incidence of hepatic veno-occlusive disease (HVOD) appears to be on the increase among pediatric patients treated with BU-thiotepa (BU-TTP)-conditioning regimen. We thus performed a retrospective analysis to identify the risk factors for HVOD, which could explain such a ch...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Cacchione A,LeMaitre A,Couanet DV,Benhamou E,Amoroso L,Simonnard N,Hartmann O

    更新日期:2008-10-01 00:00:00

  • Comparison between filgrastim and lenograstim plus chemotherapy for mobilization of PBPCs.

    abstract::Recombinant human (rHu) G-CSF has been widely used to treat neutropenia and mobilize PBPCs for their autologous and allogeneic transplantation. It shortens neutropenia and thus reduces the frequency of neutropenic fever. We compared the efficiency of glycosylated rHu and non-glycosylated Hu G-CSF in mobilizing hematop...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Ria R,Gasparre T,Mangialardi G,Bruno A,Iodice G,Vacca A,Dammacco F

    更新日期:2010-02-01 00:00:00

  • Efficacy and safety of CDX-301, recombinant human Flt3L, at expanding dendritic cells and hematopoietic stem cells in healthy human volunteers.

    abstract::Fms-like tyrosine kinase-3 ligand (Flt3L) uniquely binds the Flt3 (CD135) receptor expressed on hematopoietic stem cells (HSCs), early progenitor cells, immature thymocytes and steady-state dendritic cells (DCs) and induces their proliferation, differentiation, development and mobilization in the bone marrow, peripher...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Anandasabapathy N,Breton G,Hurley A,Caskey M,Trumpfheller C,Sarma P,Pring J,Pack M,Buckley N,Matei I,Lyden D,Green J,Hawthorne T,Marsh HC,Yellin M,Davis T,Keler T,Schlesinger SJ

    更新日期:2015-07-01 00:00:00

  • Fatal cyclophosphamide cardiomyopathy: its clinical course and treatment.

    abstract::Acute decompensating cardiomyopathy induced by cyclophosphamide is usually irreversible. To investigate the clinical course and the outcome of therapy, 13 patients (1.7%) with grade III acute cardiomyopathy and hypotension who were treated with ablative transplant regimens between January 1980 and September 1995 were ...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Lee CK,Harman GS,Hohl RJ,Gingrich RD

    更新日期:1996-09-01 00:00:00

  • Hematopoietic stem cell transplantation for adults with acute promyelocytic leukemia in the ATRA era: a survey of the European Cooperative Group for Blood and Marrow Transplantation.

    abstract::We performed a survey of the European Cooperative Group for Blood and Marrow Transplantation to analyze the outcome of 625 acute promyelocytic leukemia (APL) patients transplanted with auto- or allogeneic-hematopoietic stem cell transplantation (autoHSCT, alloHSCT) after 1993, in first (CR1) or in second complete remi...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章,多中心研究


    authors: Sanz MA,Labopin M,Gorin NC,de la Rubia J,Arcese W,Meloni G,Bacigalupo A,Alessandrino P,Carreras E,Iriondo A,Novitzky N,Jacobs P,Bandini G,Lo-Coco F,Frassoni F,Rocha V,Acute Leukemia Working Party (ALWP) of European Cooper

    更新日期:2007-04-01 00:00:00

  • Consolidation with a busulfan-containing regimen followed by stem cell transplantation in infants with poor prognosis stage 4 neuroblastoma.

    abstract::Although infants with stage 4 neuroblastoma (NB) usually have a good prognosis, metastatic relapses after 1 year of age and amplification of the N-myc oncogene are established poor prognostic factors. In order to improve the survival of patients with such high-risk factors, we performed consolidation with a busulfan (...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Valteau-Couanet D,Benhamou E,Vassal G,Stambouli F,Lapierre V,Couanet D,Lumbroso J,Hartmann O

    更新日期:2000-05-01 00:00:00

  • High-dose chemotherapy with BEAC regimen and autologous bone marrow transplantation for intermediate grade and immunoblastic lymphoma: durable complete remissions, but a high rate of regimen-related toxicity.

    abstract::Forty-eight adult patients with recurrent or refractory intermediate grade or immunoblastic lymphoma received high-dose carmustine (BCNU), etoposide, Ara C and cyclophosphamide (BEAC), followed by autologous bone marrow transplantation (BMT). Median follow-up is 906 days (range 613-2067 days). The complete remission r...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: van Besien K,Tabocoff J,Rodriguez M,Andersson B,Mehra R,Przepiorka D,Dimopoulos M,Giralt S,Suki S,Khouri I

    更新日期:1995-04-01 00:00:00

  • Long-term survival in advanced chronic myelogenous leukemia following bone marrow transplantation from haploidentical related donors.

    abstract::From 1987 to 1991, 26 patients with CML and a median age of 31 years received allogeneic BMT from a partially mismatched related donor (PMRD) who shared at least one haplotype with the recipient. Nine patients were in accelerated phase (AP), and 11 patients were in blast crisis (BC) at the time of BMT. Patients were m...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Bishop MR,Henslee-Downey PJ,Anderson JR,Romond EH,Marciniak E,Yankey R,Reeves M,Thompson JS

    更新日期:1996-10-01 00:00:00

  • The evolution of clinical peripheral blood stem cell transplantation.

    abstract::Our growing physiological understanding of hematopoietic progenitor cells has led to the clinical use of circulating progenitor cells, including stem cells, for either reconstitution of hematopoietic function, up to the transduction of functional genes into a self-renewing cell system. In the following, an attempt has...

    journal_title:Bone marrow transplantation

    pub_type: 历史文章,杂志文章


    authors: Körbling M,Fliedner TM

    更新日期:1996-05-01 00:00:00

  • Pathology of the liver in mucopolysaccharidosis: light and electron microscopic assessment before and after bone marrow transplantation.

    abstract::Serial liver biopsies were obtained in 20 patients undergoing bone marrow transplantation (BMT) for mucopolysaccharidosis (MPS). The 13 patients with MPS I, one with MPS II, four with MPS III, and two with MPS VI underwent liver biopsy prior to and from 1 to 37 months after BMT. The amount of accumulated glycosaminogl...

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Resnick JM,Krivit W,Snover DC,Kersey JH,Ramsay NK,Blazar BR,Whitley CB

    更新日期:1992-09-01 00:00:00

  • No effect of nadroparin prophylaxis in the prevention of central venous catheter (CVC)-associated thrombosis in bone marrow transplant recipients.

    abstract::Complications of CVCs in 382 consecutive patients receiving a stem cell transplantation (SCT) were analysed. Early complications were pneumothorax (3.6%), haematothorax (0.5%), dislocation (3%) and dysfunction (3.6%). Eighty-seven-associated infections (22%) were observed, leading to removal of the CVC in 26 patients....

    journal_title:Bone marrow transplantation

    pub_type: 杂志文章


    authors: Lagro SW,Verdonck LF,Borel Rinkes IH,Dekker AW

    更新日期:2000-11-01 00:00:00